id stringlengths 2 20 | ch_id stringlengths 2 20 | keywords listlengths 0 162 | title stringlengths 0 130 | authors stringlengths 0 245 | abstract stringlengths 0 4.05k | content stringlengths 0 197k | references listlengths 0 142 | created_date stringlengths 0 10 | updated_date stringlengths 0 10 | revised_date stringlengths 0 10 | journal stringclasses 1
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a-mannosidosis | a-mannosidosis | [
"α-Mannosidosis",
"a-Mannosidosis",
"Lysosomal alpha-mannosidase",
"MAN2B1",
"Alpha-Mannosidosis"
] | Alpha-Mannosidosis | Can Ficicioglu, Karolina M Stepien | Summary The clinical phenotype of alpha-mannosidosis varies considerably, with a wide spectrum of clinical findings and broad variability in individual presentation. At least three clinical types have been suggested in untreated individuals: mild (clinically recognized after age ten years, with myopathy, slow progressi... | Mild form (type 1): typically recognized after age ten years, with myopathy, slow progression, and no skeletal abnormalities
Moderate form (type 2): typically recognized before age ten years, with myopathy, slow progression, and presence of skeletal abnormalities
Severe form (type 3): Obvious progression leading to e... | [] | 11/10/2001 | 13/6/2024 | 18/7/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
a-thal | a-thal | [
"Hemoglobin Bart Hydrops Fetalis (Hb Bart) Syndrome",
"Hemoglobin H (HbH) Disease",
"a-Thalassemia Trait/Carrier",
"a-Thalassemia Silent Carrier",
"Hemoglobin subunit alpha",
"Hemoglobin subunit zeta",
"HBA1",
"HBA2",
"HBZ",
"Alpha-Thalassemia"
] | Alpha-Thalassemia | Hannah Tamary, Orly Dgany | Summary Alpha-thalassemia (α-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome (caused by deletion/inactivation of all four alpha globin [α-globin] alleles; --/--), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three α-globin allel... | For synonyms and outdated names see
In descending order of severity
## Diagnosis
Alpha-thalassemia (α-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb bart) syndrome (deletion/inactivation of all four alpha globin [α-globin] alleles; --/--), and hemoglobin H (HbH) disease (most ... | [] | 1/11/2005 | 1/10/2020 | 23/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
aadc-def | aadc-def | [
"AADC Deficiency",
"AADC Deficiency",
"Aromatic-L-amino-acid decarboxylase",
"DDC",
"Aromatic L-Amino Acid Decarboxylase Deficiency"
] | Aromatic L-Amino Acid Decarboxylase Deficiency | Nenad Blau, Toni S Pearson, Manju A Kurian, Sarah H Elsea | Summary Individuals with aromatic L-amino acid decarboxylase (AADC) deficiency typically have complex symptoms, including motor, behavioral, cognitive, and autonomic findings. Symptom onset is in early infancy, typically within the first six months of life. The most common initial symptoms are often nonspecific, and in... | ## Diagnosis
Consensus clinical diagnostic criteria for aromatic L-amino acid decarboxylase (AADC) deficiency have been published [
AADC deficiency
Infantile hypotonia
Ptosis
Oculogyric crises (an involuntary and prolonged upward deviation of the eyes, often precipitated by such factors as fatigue, diurnal varia... | [] | 12/10/2023 | 23/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
aars2-dis | aars2-dis | [
"AARS2-Related Infant-Onset Cardiomyopathy",
"AARS2-Related Neurodegeneration With or Without Leukoencephalopathy",
"Alanine--tRNA ligase, mitochondrial",
"AARS2",
"AARS2-Related Disorder"
] | Tomasz Chmiela, Zbigniew K Wszolek | Summary The diagnosis of In In | Infantile-onset cardiomyopathy
Neurodegeneration with or without leukoencephalopathy
For other genetic causes of these phenotypes, see
• Infantile-onset cardiomyopathy
• Neurodegeneration with or without leukoencephalopathy
## Diagnosis
Formal diagnostic criteria for
Hypertrophic cardiomyopathy
Hypotonia
Mus... | [] | 31/10/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
ab-lipo-p | ab-lipo-p | [
"Bassen-Kornzweig Syndrome",
"Bassen-Kornzweig Syndrome",
"Microsomal triglyceride transfer protein large subunit",
"MTTP",
"Abetalipoproteinemia"
] | Abetalipoproteinemia | John R Burnett, Amanda J Hooper, Robert A Hegele | Summary Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-sol... | ## Diagnosis
No formal clinical diagnostic criteria for abetalipoproteinemia have been published.
Classic abetalipoproteinemia presents from birth with failure to thrive, severe diarrhea and vomiting, and malabsorption of fat. Abetalipoproteinemia
Failure to thrive, with diarrhea and vomiting
Fat malabsorption wi... | [
"S Bishara, S Merin, M Cooper, E Azizi, G Delpre, RJ Deckelbaum. Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinemia.. Br J Ophthalmol. 1982;66:767-70",
"DD Black, RV Hay, PL Rohwer-Nutter, H Ellinas, JK Stephens, H Sherman, BB Teng, PF Whitington, NO David... | 25/10/2018 | 19/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
abs | abs | [
"POR Deficiency",
"PORD",
"POR Deficiency",
"PORD",
"Antley-Bixler Syndrome",
"Congenital Adrenal Hyperplasia due to Apparent Combined CYP17A1 and CYP21A2 Enzymatic Deficiency",
"NADPH--cytochrome P450 reductase",
"POR",
"Cytochrome P450 Oxidoreductase Deficiency"
] | Cytochrome P450 Oxidoreductase Deficiency | Jan Idkowiak, Deborah Cragun, Robert J Hopkin, Wiebke Arlt | Summary Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is us... | Antley-Bixler syndrome
Congenital adrenal hyperplasia due to apparent combined CYP17A1 and CYP21A2 enzymatic deficiency
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Antley-Bixler syndrome
• Congenital adrenal hyperplasia due to apparent combined CYP17A1 and CYP21A2 enzymat... | [
"M Adachi, K Tachibana, Y Asakura, T Yamamoto, K Hanaki, A Oka. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.. Am J Med Genet A 2004;128A:333-9",
"V Agrawal, JH Choi, KM Giacomini, WL Miller. Substrate-specific modulation of CYP3A4 activi... | 8/9/2005 | 3/8/2017 | 2/11/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
accpn | accpn | [
"Agenesis of Corpus Callosum with Peripheral Neuropathy (ACCPN)",
"Andermann Syndrome",
"Agenesis of Corpus Callosum with Peripheral Neuropathy (ACCPN)",
"Andermann Syndrome",
"Solute carrier family 12 member 6",
"SLC12A6",
"Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum"
] | Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum | Claudie Gauvreau, Jean-Denis Brisson, Nicolas Dupré | Summary Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus ca... | ## Diagnosis
Consensus diagnostic criteria for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) have not been established.
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC)
Severe progressive sensorimotor neuropathy with areflexia
Develo... | [] | 2/2/2006 | 17/9/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
achm | achm | [
"Complete Achromatopsia (Rod Monochromatism, Total Color Blindness)",
"Incomplete Achromatopsia",
"Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'",
"Cyclic AMP-dependent transcription factor ATF-6 alpha",
"Cyclic nucleotide-gated channel alpha-3",
"Cyclic nucleotide-gated channel beta-3"... | Achromatopsia | Susanne Kohl, Herbert Jägle, Bernd Wissinger, Ditta Zobor | Summary Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along al... | Complete achromatopsia (rod monochromatism, total color blindness)
Incomplete achromatopsia
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Complete achromatopsia (rod monochromatism, total color blindness)
• Incomplete achromatopsia
## Diagnosis
Achromatopsia
Pendular n... | [] | 24/6/2004 | 20/9/2018 | 25/2/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
achon1b | achon1b | [
"ACG1B, SLC26A2-Related Achondrogenesis",
"ACG1B",
"SLC26A2-Related Achondrogenesis",
"Sulfate transporter",
"SLC26A2",
"Achondrogenesis Type 1B"
] | Achondrogenesis Type 1B | Sheila Unger, Andrea Superti-Furga | Summary Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft ti... | ## Diagnosis
Achondrogenesis type 1B (ACG1B) is a perinatal-lethal disorder with death occurring prenatally or shortly after birth.
ACG1B
Extremely short limbs with short fingers and toes and clubfeet
Hypoplasia of the thorax
Protuberant abdomen
Hydropic fetal appearance caused by the abundance of soft tissue r... | [] | 30/8/2002 | 9/6/2022 | 16/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
achondroplasia | achondroplasia | [
"FGFR3-Related Achondroplasia",
"FGFR3-Related Achondroplasia",
"Fibroblast growth factor receptor 3",
"FGFR3",
"Achondroplasia"
] | Achondroplasia | Janet M Legare | Summary Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestone... | ## Diagnosis
Both the clinical and radiologic features of achondroplasia have been well defined [
The diagnosis of achondroplasia
Disproportionate short stature
Macrocephaly with frontal bossing
Midface retrusion and depressed nasal bridge
Rhizomelic (proximal) shortening of the arms with redundant skin folds o... | [
"MC Ain, JA Browne. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia.. Spine 2004;29:2075-80",
"Y Akyol, LW Aaverill, A Atanda, HH Kecskemethy, MB Bober, WG Mackenzie. Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia.. Pediatr ... | 12/10/1998 | 6/8/2020 | 11/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
acp | acp | [
"Ceruloplasmin",
"CP",
"Aceruloplasminemia"
] | Aceruloplasminemia | Hiroaki Miyajima, Yasushi Hosoi | Summary Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 30 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grim... | ## Diagnosis
Aceruloplasminemia is characterized by iron accumulation in the brain and viscera.
Aceruloplasminemia
Characteristic retinal degeneration findings (which differ from diabetic retinopathy [
Evidence of early-onset macular degeneration
Undisturbed visual acuity
Several small yellowish opacities scatt... | [
"S Bosio, M De Gobbi, A Roetto, G Zecchina, E Leonardo, M Rizzetto, C Lucetti, L Petrozzi, U Bonuccelli, C Camaschella. Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations.. Blood 2002;100:2246-8",
"M Daimon, S Susa, T Ohizumi, S Moriai, T Kawanami, A Hirata, H Yamaguchi, H O... | 12/8/2003 | 27/9/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
acpp | acpp | [
"Long QT Syndrome Type 7 (LQTS Type 7)",
"LQT7",
"Long QT Syndrome Type 7",
"LQTS Type 7",
"G protein-activated inward rectifier potassium channel 4",
"Inward rectifier potassium channel 2",
"KCNJ2",
"KCNJ5",
"Andersen-Tawil Syndrome"
] | Andersen-Tawil Syndrome | Aravindhan Veerapandiyan, Jeffrey M Statland, Rabi Tawil | Summary Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scolios... | ## Diagnosis
Andersen-Tawil syndrome (ATS)
A. Presence of two of the following three criteria:
Periodic paralysis
Symptomatic cardiac arrhythmias or electrocardiographic evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval
Characteristic facies, dental anomalies, small hands and fee... | [
"T Ai, Y Fujiwara, K Tsuji, H Otani, S Nakano, Y Kubo, M. Horie. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.. Circulation. 2002;105:2592-4",
"KJ Airey, SP Etheridge, R Tawil, M Tristani-Firouzi. Resuscitated sudden cardiac death in Andersen-Tawil syndrome.. Heart Rhythm. 2009... | 22/11/2004 | 7/6/2018 | 3/9/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
actg2-dis | actg2-dis | [
"Berdon Syndrome",
"Familial Visceral Myopathy",
"Familial Visceral Myopathy",
"Berdon Syndrome",
"Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome",
"Prune Belly Sequence",
"Chronic Intestinal Pseudoobstruction (CIPO)",
"Actin, gamma-enteric smooth muscle",
"ACTG2",
"ACTG2 Visceral Myopa... | Pranjali K Bhagwat, Michael F Wangler | Summary Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often exp... | ## Diagnosis
No consensus clinical diagnostic criteria for
Prenatal ultrasound revealing megacystis, defined according to trimester [
First trimester. Bladder diameter >6 mm
Second and third trimesters. Enlarged bladder with failure to empty within 45 minutes
In neonates, prune-belly sequence (megacystis with la... | [
"N Assia Batzir, P Kishor Bhagwat, A Larson, Z Coban Akdemir, M Bagłaj, L Bofferding, KB Bosanko, S Bouassida, B Callewaert, A Cannon, Y Enchautegui Colon, AD Garnica, MH Harr, S Heck, ACE Hurst, SN Jhangiani, B Isidor, RO Littlejohn, P Liu, P Magoulas, H Mar Fan, R Marom, S McLean, MM Nezarati, KM Nugent, MB Peter... | 11/6/2015 | 6/5/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ada | ada | [
"ADA Deficiency",
"ADA1 Deficiency",
"ADA-Related Immune Deficiency",
"Adenosine Deaminase 1 Deficiency",
"ADA Deficiency",
"ADA1 Deficiency",
"ADA-Related Immune Deficiency",
"Adenosine Deaminase 1 Deficiency",
"Less Severe Delayed/Late-Onset Combined Immunodeficiency (ADA-CID)",
"Typical Early-O... | Adenosine Deaminase Deficiency | Michael Hershfield, Teresa Tarrant | Summary Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The ADA deficiency phenotypic spectrum includes typical early-onset severe combined immunodeficiency ( Newborn screening (NBS) for SCID uses extracts from Guthrie ... | Adenosine Deaminase Deficiency: Phenotypic Spectrum
ADA = adenosine deaminase
For other genetic causes of combined immunodeficiency, see
For ADA enzyme levels associated with these phenotypes, see
Note: Deficiency of adenosine deaminase (ADA, also referred to as adenosine deaminase 1, or ADA1) is caused by pathogen... | [] | 3/10/2006 | 7/3/2024 | 14/7/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ada2-def | ada2-def | [
"ADA2 Deficiency",
"Deficiency of Adenosine Deaminase 2 (DADA2)",
"ADA2 Deficiency",
"Deficiency of Adenosine Deaminase 2 (DADA2)",
"Adenosine deaminase 2",
"ADA2",
"Adenosine Deaminase 2 Deficiency"
] | Adenosine Deaminase 2 Deficiency | Ivona Aksentijevich, Natalia Sampaio Moura, Karyl Barron | Summary Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskele... | ## Diagnosis
Formal diagnostic criteria for adenosine deaminase 2 deficiency (DADA2) have not been established.
Adenosine deaminase 2 deficiency (DADA2)
Intermittent fevers
Hepatosplenomegaly (can be evidence of portal hypertension)
Systemic hypertension
Elevated C-reactive protein (CRP) and erythrocyte sedim... | [
"F Alabbas, G Elyamany, O Alsharif, M Hershfield, I. Meyts. Childhood Hodgkin lymphoma: Think DADA2.. J Clin Immunol. 2019;39:26-9",
"A Alsultan, E Basher, J Alqanatish, R Mohammed, M. Alfadhel. Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculiti... | 8/8/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
adams-oliver | adams-oliver | [
"Aplasia Cutis Congenita with Terminal Transverse Limb Defects",
"Aplasia Cutis Congenita with Terminal Transverse Limb Defects",
"Dedicator of cytokinesis protein 6",
"Delta-like protein 4",
"EGF domain-specific O-linked N-acetylglucosamine transferase",
"Neurogenic locus notch homolog protein 1",
"Rec... | Adams-Oliver Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Anna Lehman, Wim Wuyts, Millan S Patel | Summary Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appeara... | ## Diagnosis
Adams-Oliver syndrome (AOS)
Of note, when a scalp lesion is not obviously cutis aplasia (e.g., a simple hairless lesion may appear similar to nevus psiloliparus or nevus sebaceous), a skin biopsy can confirm the characteristic features of absent epidermis, dermal atrophy, and lack of adnexal structures a... | [] | 14/4/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
adamtsl4-eyes | adamtsl4-eyes | [
"Autosomal Recessive Isolated Ectopia Lentis",
"Ectopia Lentis et Pupillae",
"ADAMTS-like protein 4",
"ADAMTSL4",
"ADAMTSL4-Related Eye Disorders"
] | Eyvind Rødahl, Anne Elisabeth Christensen Mellgren, Nils-Erik Boonstra, Per Morten Knappskog | Summary The spectrum of The diagnosis is established in individuals with characteristic eye findings by the identification of biallelic pathogenic (or likely pathogenic) variants in | Autosomal recessive isolated ectopia lentis
Ectopia lentis et pupillae
For other genetic causes of these phenotypes see
• Autosomal recessive isolated ectopia lentis
• Ectopia lentis et pupillae
## Diagnosis
The spectrum of
Mild-to-severe dislocation of the lens due to loss of zonular fibers without any precedin... | [
"I Anteby, M Isaac, D BenEzra. Hereditary subluxated lenses.. Ophthalmology 2003;110:1344-8",
"SS Apte. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms.. J Biol Chem 2009;284:31493-7",
"JA Aragon-Martin, D Ahnood, DG Charte... | 16/2/2012 | 5/7/2018 | 9/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
adcy5-dysk | adcy5-dysk | [
"Adenylate cyclase type 5",
"ADCY5",
"ADCY5-Related Movement Disorder"
] | Kathryn Yang, Darius Ebrahimi-Fakhari | Summary The diagnosis of Once the | ## Diagnosis
No consensus clinical diagnostic criteria for
Axial hypotonia and weakness (severe in some individuals)
Complex and often mixed hyperkinetic movement disorder of variable severity, including generalized chorea, generalized dystonia, and/or segmental or generalized myoclonus with:
Paroxysmal exacerbat... | [] | 18/12/2014 | 26/6/2025 | 17/12/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
adnfle | adnfle | [
"Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), ADSHE",
"Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)",
"ADSHE",
"Calcium-binding protein 4",
"Corticoliberin",
"GATOR complex protein NPRL2",
"GATOR complex protein NPRL3",
"GATOR1 complex protein DEPDC5",
"Neuronal acetyl... | Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy | Hirokazu Kurahashi, Shinichi Hirose | Summary Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) is a seizure disorder characterized by clusters of nocturnal motor seizures that are often stereotyped and brief (<2 minutes). They vary from simple arousals from sleep to dramatic, often hyperkinetic events with tonic or dystonic featu... | ## Diagnosis
The International League Against Epilepsy (ILAE) has proposed diagnostic criteria for sleep-related hypermotor (hyperkinetic) epilepsy (SHE) [
Seizures predominantly from the awake state
Frequent epileptiform abnormality outside of the frontal regions
Generalized epileptiform abnormality by EEG
Age at... | [] | 16/5/2002 | 23/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
adnp-dis | adnp-dis | [
"ADNP-Related Intellectual Disability and Autism Spectrum Disorder (ADNP-Related ID/ASD)",
"ADNP Syndrome",
"Helsmoortel-Van der Aa Syndrome (HVDAS)",
"ADNP-Related ID/ASD",
"Helsmoortel-Van der Aa Syndrome",
"Activity-dependent neuroprotector homeobox protein",
"ADNP",
"ADNP-Related Disorder"
] | Lusine Harutyunyan, Frank R Kooy, Claudio Peter D'Incal, Anke Van Dijck | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Speech and motor delay
Mild-to-severe intellectual disability
Autism spectrum disorder, additional behavioral problems, and sleep disturbance
Characteristic facial appearance including prominent forehead, high anterior hairline, downslanted palpebral fis... | [] | 7/4/2016 | 21/8/2025 | 6/10/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
aec | aec | [
"Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate Syndrome 3 (EEC3)",
"Split-Hand/Foot Malformation Type 4 (SHFM4)",
"Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome (AEC Syndrome)",
"Limb-Mammary Syndrome",
"Acro-Dermo-Ungual-Lacrimal-Tooth Syndrome (ADULT Syndrome)",
"Isolated Cleft Lip... | V Reid Sutton, Hans van Bokhoven | Summary The Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome) Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3) Limb-mammary syndrome Split-hand/foot malformation type 4 (SHFM4) Isolated cleft ... | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome)
Rapp-Hodgkin syndrome
Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3)
Limb-mammary syndrome
Split-hand/foot malformation type 4 (SHFM4)
Isolated cleft lip/c... | [
"J Amiel, G Bougeard, C Francannet, V Raclin, A Munnich, S Lyonnet, T. Frebourg. TP63 gene mutation in ADULT syndrome.. Eur J Hum Genet. 2001;9:642-5",
"S Aradhya, R Lewis, T Bonaga, N Nwokekeh, A Stafford, B Boggs, K Hruska, N Smaoul, JG Compton, G Richard, S Suchy. Exon-level array CGH in a large clinical cohor... | 8/6/2010 | 1/4/2021 | 5/12/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ags | ags | [
"Deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
"Double-stranded RNA-specific adenosine deaminase",
"Interferon-induced helicase C domain-containing protein 1",
"Ribonuclease H2 subunit A",
"Ribonuclease H2 subunit B",
"Ribonuclease H2 subunit C",
"Three prime repair exonuclease 1",
"ADAR",... | Aicardi-Goutières Syndrome | Yanick J Crow | Summary Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes... | ## Diagnosis
In its most characteristic form, Aicardi-Goutières syndrome (AGS) can be considered an early-onset encephalopathy associated with significant intellectual and physical disability.
Aicardi-Goutières syndrome (AGS)
Encephalopathy and/or significant intellectual disability
Acquired microcephaly during the... | [
"GM Abdel-Salam, MS Zaki, SN Saleem, KR Gaber. Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.. Am J Med Genet A. 2008;146A:2929-36",
"J Abe, K Izawa, R Nishikomori, T Awaya, T Kawai, T Yasumi, N Hiragi, T Hiragi, Y Ohshima, T. Heike. Heteroz... | 29/6/2005 | 22/11/2016 | 1/3/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
agu | agu | [
"AGA Deficiency",
"Aspartylglucosaminidase Deficiency",
"Aspartylglycosaminuria",
"Glycoasparaginase Deficiency",
"Glycosylasparaginase Deficiency",
"Aspartylglycosaminuria",
"Glycosylasparaginase Deficiency",
"Aspartylglucosaminidase Deficiency",
"AGA Deficiency",
"Glycoasparaginase Deficiency",
... | Aspartylglucosaminuria | Kimberly Goodspeed, Xin Chen, Michel Tchan | Summary Aspartylglucosaminuria is a lysosomal storage disorder characterized by developmental delay, intellectual disability, behavioral manifestations (hyperactivity in young children, anxiety and restlessness in adolescence, and apathy in adulthood), recurrent infections, musculoskeletal features, and characteristic ... | ## Diagnosis
No consensus clinical diagnostic criteria for aspartylglucosaminuria have been published.
Aspartylglucosaminuria
Mild-to-moderate developmental delay
Mild-to-moderate intellectual disability
Other neurologic manifestations (seizures, poor balance, and coordination)
Behavioral manifestations (hypera... | [] | 18/1/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ahc | ahc | [
"Adrenal Hypoplasia Congenita",
"Congenital Adrenal Hypoplasia",
"X-Linked AHC",
"X-Linked Adrenal Hypoplasia Congenita",
"Xp21 Deletion (Complex Glycerol Kinase Deficiency)",
"Dystrophin",
"Glycerol kinase",
"Interleukin-1 receptor accessory protein-like 1",
"Nuclear receptor subfamily 0 group B me... | John C Achermann, Eric J Vilain | Summary Xp21 deletion includes deletion of The diagnosis of If puberty has not started by age 14 years, monitoring of serum concentrations of LH, FSH, testosterone, and inhibin B to evaluate for the possibility of HH is necessary. If puberty has started spontaneously, it is likely to arrest; thus, yearly routine monito... | X-linked adrenal hypoplasia congenita
Xp21 deletion (complex glycerol kinase deficiency)
For synonyms and outdated names see
• X-linked adrenal hypoplasia congenita
• Xp21 deletion (complex glycerol kinase deficiency)
## Diagnosis
Acute primary adrenal insufficiency in the first (or second) month of life
Prima... | [
"JC Achermann, M Ito, BL Silverman, RL Habiby, S Pang, A Rosler, JL Jameson. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.. J Clin Endocrinol Metab 2001;86:3171-5",
"JC Achermann, BL Silverman, RL Habiby, JL Jameson. Presymptomatic diagnosis of X-li... | 20/11/2001 | 25/1/2018 | 7/5/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
aic | aic | [
"Aicardi Syndrome"
] | Aicardi Syndrome | V Reid Sutton, Ignatia B Van den Veyver | Summary Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affect... | ## Diagnosis
No consensus clinical diagnostic criteria for Aicardi syndrome have been published.
The diagnosis of Aicardi syndrome is based exclusively on clinical findings. Modified diagnostic criteria have been proposed [
The presence of the classic triad is diagnostic for Aicardi syndrome.
The presence of two of... | [] | 30/6/2006 | 12/11/2020 | 20/9/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
aip | aip | [
"PBGD Deficiency",
"Porphobilinogen Deaminase Deficiency",
"Porphobilinogen Deaminase Deficiency",
"PBGD Deficiency",
"Porphobilinogen deaminase",
"HMBS",
"Acute Intermittent Porphyria (AIP)"
] | Acute Intermittent Porphyria | Eliane Sardh, Michela Barbaro | Summary An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio ≥10 times the upper limit of normal (ULN) and the presence of ≥2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for >24 hours in the absence of oth... | Acute Intermittent Porphyria: Clinical Designations for Individuals Heterozygous for an
Sporadic AIP: 1-3 acute porphyria attacks in any 12-month period within the last 2 years
Recurrent AIP: ≥4 acute porphyria attacks in a maximum period of 12 months within the last 2 years
Latent at-risk individual: An asymptomati... | [] | 27/9/2005 | 8/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
alagille | alagille | [
"Arteriohepatic Dysplasia",
"Syndromic Bile Duct Paucity",
"Arteriohepatic Dysplasia",
"Syndromic Bile Duct Paucity",
"Neurogenic locus notch homolog protein 2",
"Protein jagged-1",
"JAG1",
"NOTCH2",
"Alagille Syndrome"
] | Alagille Syndrome | Nancy B Spinner, Kathleen M Loomes, Ian D Krantz, Melissa A Gilbert | Summary Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the... | ## Diagnosis
Clinical diagnostic criteria for Alagille syndrome (ALGS) have been published [
ALGS
Cholestasis
Cardiac defect (most commonly stenosis of the peripheral pulmonary artery and its branches)
Skeletal abnormalities (most commonly butterfly vertebrae identified in AP chest radiographs)
Ophthalmologic a... | [] | 19/5/2000 | 4/1/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
alexander | alexander | [
"Glial fibrillary acidic protein",
"GFAP",
"Alexander Disease"
] | Alexander Disease | Siddharth Srivastava, Amy Waldman, Sakkubai Naidu | Summary Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous The The The The The diagnosis of Alexander disease is established in a proband with suggestive clinical and neuroimaging findings and a heterozygous pathogenic variant in Alexander disease is inherited in an autosomal do... | With the currently widespread use of advanced molecular genetic testing, it is apparent that heterozygous
## Diagnosis
Alexander disease
Weak suck, feeding difficulties, hypotonia, and myoclonus
Progressive psychomotor impairment or developmental regression
Megalencephaly with frontal bossing
Note: Though the t... | [
"T Ayaki, M Shinohara, S Tatsumi, M Namekawa, T. Yamamoto. A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse.. J Neurol Neurosurg Psychiatry. 2010;81:1292-3",
"M de Beer, M Engelen, BM van Geel. Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy.. Ne... | 15/11/2002 | 12/11/2020 | 9/3/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
alk-nbs | alk-nbs | [
"ALK-Related Neuroblastoma",
"ALK-Related Ganglioneuroblastoma",
"ALK-Related Ganglioneuroma",
"ALK tyrosine kinase receptor",
"ALK",
"ALK-Related Neuroblastic Tumor Susceptibility"
] | Emily G Greengard, Melissa R Perrino, Julie R Park | Summary | Neuroblastoma
Ganglioneuroblastoma
Ganglioneuroma
For other genetic causes of these phenotypes see
• Neuroblastoma
• Ganglioneuroblastoma
• Ganglioneuroma
## Diagnosis
A neuroblastic tumor including neuroblastoma, ganglioneuroblastoma, or ganglioneuroma;
Multiple primary neuroblastic tumors that arise either s... | [] | 5/1/2010 | 23/5/2024 | 9/5/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
alkap | alkap | [
"Alcaptonuria",
"Alcaptonuria",
"Homogentisate 1,2-dioxygenase",
"HGD",
"Alkaptonuria"
] | Alkaptonuria | Wendy J Introne, Monique Perry, Marcus Chen | Summary Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentatio... | ## Diagnosis
No consensus clinical diagnostic criteria for alkaptonuria have been published.
Alkaptonuria
Brown pigmentation of the sclera is observed midway between the cornea and the outer and inner canthi at the insertion of the recti muscles. Pigment deposition may also be seen in the conjunctiva and cornea (
... | [
"DB Ascher, O Spiga, M Sekelska, DEV Pires, A Bernini, M Tiezzi, J Kralovicova, I Borovska, A Soltysova, B Olsson, S Galderisi, V Cicaloni, L Ranganath, A Santucci, A Zatkova. Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with... | 9/5/2003 | 10/6/2021 | 2/7/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
alpers | alpers | [
"Alpers-Huttenlocher Syndrome (AHS)",
"Ataxia Neuropathy Spectrum (ANS)",
"Autosomal Recessive Progressive External Ophthalmoplegia (arPEO)",
"Autosomal Dominant Progressive External Ophthalmoplegia (adPEO)",
"Childhood Myocerebrohepatopathy Spectrum (MCHS)",
"Myoclonic Epilepsy Myopathy Sensory Ataxia (M... | Bruce H Cohen, Patrick F Chinnery, William C Copeland | Summary Establishing the diagnosis of a Early-onset and juvenile/adult-onset Once the | Adapted from
+++ = feature is typically present; + = feature is often present
adPEO = autosomal dominant progressive external ophthalmoplegia; AHS = Alpers-Huttenlocher syndrome; ANS = ataxia neuropathy spectrum; arPEO = autosomal recessive progressive external ophthalmoplegia; MCHS = myocerebrohepatopathy spectrum; ... | [] | 16/3/2010 | 29/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
alpha1-a | alpha1-a | [
"AAT Deficiency",
"A1AT Deficiency",
"AATD",
"Alpha-1 Antiprotease Deficiency",
"AAT Deficiency",
"A1AT Deficiency",
"AATD",
"Alpha-1 Antiprotease Deficiency",
"Alpha-1-antitrypsin",
"SERPINA1",
"Alpha-1 Antitrypsin Deficiency"
] | Alpha-1 Antitrypsin Deficiency | James K Stoller, Vera Hupertz, Loutfi S Aboussouan | Summary Alpha-1 antitrypsin deficiency (AATD) can present with hepatic dysfunction in individuals from infancy to adulthood and with chronic obstructive lung disease (emphysema and/or bronchiectasis), characteristically in individuals older than age 30 years. Individuals with AATD are also at increased risk for pannicu... | ## Diagnosis
Alpha-1 antitrypsin deficiency (AATD) should be suspected in individuals with evidence of:
Chronic obstructive pulmonary disease (i.e., emphysema, persistent airflow obstruction, chronic bronchitis, and/or bronchiectasis); AND/OR
Any of the following:
Liver disease at any age, including obstructive jau... | [
"HS Al Ashry, C Strange. COPD in individuals with the PiMZ alpha-1 antitrypsin genotype.. Eur Respir Rev. 2017;26",
"Survival and FEV1 decline in individuals with severe deficiency of alpha-1 antitrypsin (Alpha-1 Antitrypsin Deficiency Registry Study Group).. Am J Respir Crit Care Med. 1998;158:49-59",
"America... | 27/10/2006 | 21/5/2020 | 1/6/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
alpk1-auto | alpk1-auto | [
"ROSAH Syndrome",
"ROSAH Syndrome",
"Alpha-protein kinase 1",
"ALPK1",
"ALPK1-Related Autoinflammatory Disease"
] | Christina Kozycki, Dan Kastner, Laryssa Huryn, Shilpa Kodati, Blake M Warner | Summary The diagnosis of | ## Diagnosis
Optic nerve edema (elevation) is often present on initial evaluation even in early childhood (i.e., age <10 years). Can be observed on fundoscopic evaluation and on measurement of retinal nerve fiber layer thickness obtained by optical coherence tomography (OCT).
Intraocular inflammation (uveitis, reti... | [] | 27/6/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
alport | alport | [
"Familial Nephritis",
"Hereditary Nephritis",
"Familial Nephritis",
"Hereditary Nephritis",
"Collagen alpha-3(IV) chain",
"Collagen alpha-4(IV) chain",
"Collagen alpha-5(IV) chain",
"COL4A3",
"COL4A4",
"COL4A5",
"Alport Syndrome"
] | Alport Syndrome | Kandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi | Summary Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Al... | ## Diagnosis
Diagnostic criteria for Alport syndrome have been published [
Molecular genetic testing for Alport syndrome
Sensorineural deafness
Anterior lenticonus and/or characteristic retinopathy
Diffuse leiomyomatosis
Hematuria
Chronic kidney disease / kidney failure
Deafness associated with chronic kidn... | [] | 28/8/2001 | 27/2/2025 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
alps | alps | [
"ALPS",
"ALPS",
"Canale-Smith Syndrome",
"Caspase-10",
"Tumor necrosis factor ligand superfamily member 6",
"Tumor necrosis factor receptor superfamily member 6",
"CASP10",
"FAS",
"FASLG",
"Autoimmune Lymphoproliferative Syndrome"
] | Autoimmune Lymphoproliferative Syndrome | Jack JH Bleesing, Chinmayee B Nagaraj, Kejian Zhang | Summary Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age Autoimmune disease, mostly directed toward blood cells... | ## Diagnosis
The diagnosis of autoimmune lymphoproliferative syndrome (ALPS) is based on a constellation of clinical findings, laboratory abnormalities, and identification of pathogenic variants in genes relevant for the tumor necrosis factor receptor superfamily member 6 (Fas) pathway of apoptosis.
ALPS
Chronic non... | [] | 14/9/2006 | 24/8/2017 | 9/7/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
als-ftd | als-ftd | [
"C9orf72-FTD/ALS",
"C9orf72-FTD/ALS",
"Guanine nucleotide exchange factor C9orf72",
"C9orf72",
"C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis"
] | Helena Gossye, Sebastiaan Engelborghs, Christine Van Broeckhoven, Julie van der Zee | Summary The diagnosis of | ## Diagnosis
In this
Manifestations specific to
Behavioral variant FTD (31.4%)
Nonfluent/agrammatic variant PPA (1.8%)
Semantic variant PPA (0.9%)
Other tauopathy: corticobasal degeneration, progressive supranuclear palsy, other PPA (0.7%)
Alzheimer disease, Parkinson disease, Huntington disease, & dementia w/Le... | [
"C Akimoto, AE Volk, M van Blitterswijk, M Van den Broeck, CS Leblond, S Lumbroso, W Camu, B Neitzel, O Onodera, W van Rheenen, S Pinto, M Weber, B Smith, M Proven, K Talbot, P Keagle, A Chesi, A Ratti, J van der Zee, H Alstermark, A Birve, D Calini, A Nordin, DC Tradowsky, W Just, H Daoud, S Angerbauer, M DeJesus-... | 8/1/2015 | 17/12/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
als-overview | als-overview | [
"Lou Gehrig Disease",
"ALS",
"Lou Gehrig Disease",
"ALS2-Related Disorder",
"SETX-Related Amyotrophic Lateral Sclerosis",
"SOD1-Related Amyotrophic Lateral Sclerosis",
"TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia",
"VAPB-Related Amyotrophic Lateral Sclerosis",
"ANG-Related A... | Amyotrophic Lateral Sclerosis Overview | Nailah Siddique, Teepu Siddique | Summary The purpose of this overview is to: Describe the Review Provide an Provide a high-level view of Inform | ## Clinical Characteristics of ALS
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease involving both the brain and spinal cord. While it has traditionally been perceived to be a syndrome primarily affecting motor neurons, there is increasing recognition that additional areas within ... | [] | 23/3/2001 | 3/10/2019 | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
alstrom | alstrom | [
"Centrosome-associated protein ALMS1",
"ALMS1",
"Alstrom Syndrome"
] | Alström Syndrome | Richard B Paisey, Rick Steeds, Tim Barrett, Denise Williams, Tarekegn Geberhiwot, Meral Gunay-Aygun | Summary Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAF... | ## Diagnosis
Alström syndrome
Cone-rod dystrophy with decreased vision and secondary nystagmus and photodysphoria (light sensitivity / photophobia) usually within the first year of life. Full-field electroretinography, required to establish the diagnosis of cone-rod dystrophy, is abnormal from birth, eventually with ... | [
"N Akdeniz, SG Bilgili, S Aktar, S Yuca, O Calka, A Kilic, M Kosem. Alström syndrome with acanthosis nigricans: a case report and literature review.. Genet Couns. 2011;22:393-400",
"D Astuti, A Sabir, P Fulton, M Zatyka, D Williams, C Hardy, G Milan, F Favaretto, P Yu-Wai-Man, J Rohayem, M López de Heredia, T Her... | 7/2/2003 | 13/6/2019 | 11/5/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
alzheimer-early | alzheimer-early | [
"EOFAD",
"EOFAD",
"Amyloid-beta A4 protein",
"Presenilin-1",
"Presenilin-2",
"APP",
"PSEN1",
"PSEN2",
"Early-Onset Familial Alzheimer Disease"
] | Early-Onset Familial Alzheimer Disease – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Thomas D Bird | Summary Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common... | ## Diagnosis
Alzheimer disease (AD) (see
Adult-onset slowly progressive dementia
Absence of other causes of dementia
Cerebral cortical atrophy by neuroimaging studies
Beta-amyloid neuritic plaques and intraneuronal neurofibrillary tangles at post-mortem examination (see diagnostic criteria,
Early-onset familial A... | [] | 24/9/1999 | 23/12/2010 | 18/10/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
alzheimer | alzheimer | [
"Early-Onset Familial Alzheimer Disease",
"Late-Onset Familial Alzheimer Disease",
"Amyloid-beta precursor protein",
"Apolipoprotein E",
"Presenilin-1",
"Presenilin-2",
"APOE",
"APP",
"PSEN1",
"PSEN2",
"Alzheimer Disease",
"Overview"
] | Alzheimer Disease Overview | Thomas D Bird | Summary The purpose of this overview is to: Describe the Review the genetic Provide an Inform | ## Clinical Characteristics of Alzheimer Disease
Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory (often called mild cognitive impairment or MCI) and slowly becomes more severe and, eventually, incapacitating. Other common findings include c... | [] | 23/10/1998 | 20/12/2018 | 24/9/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
amish-mcph | amish-mcph | [
"SLC25A19 Deficiency",
"SLC25A19 Deficiency",
"Amish Lethal Microcephaly",
"Thiamine Metabolism Dysfunction Syndrome 4 (THMD-4)",
"Mitochondrial thiamine pyrophosphate carrier",
"SLC25A19",
"SLC25A19-Related Thiamine Metabolism Dysfunction"
] | Brahim Tabarki, Farah Thabet, Majid Alfadhel | Summary Amish lethal microcephaly is characterized by severe congenital microcephaly, developmental delay, seizures, 2-oxoglutaric aciduria, and often premature death. THMD-4 is characterized by febrile illness-associated episodic encephalopathy, progressive polyneuropathy, and bilateral striatal necrosis. The diagnosi... | Amish lethal microcephaly
Thiamine metabolism dysfunction syndrome 4 (THMD-4)
For synonyms and outdated names, see
For other genetic causes of these phenotypes, see
• Amish lethal microcephaly
• Thiamine metabolism dysfunction syndrome 4 (THMD-4)
## Diagnosis
Severe congenital microcephaly
Developmental delay
... | [] | 4/9/2003 | 30/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
amrf | amrf | [
"Lysosome membrane protein 2",
"SCARB2",
"SCARB2-Related Action Myoclonus-Renal Failure Syndrome"
] | Changrui Xiao, Haejun Ahn, Sara Kibrom, Camilo Toro | Summary The diagnosis of The supportive care for neurologic manifestations that is recommended to improve quality of life, maximize function, and reduce complications includes pharmacotherapy to reduce myoclonus; anti-seizure medication (ASM) and vagus nerve stimulation to reduce seizures; physical and occupational the... | ## Diagnosis
No consensus clinical diagnostic criteria for
The tremor can later involve the head, trunk, lower extremities, and sometimes tongue and voice. In the later stages of the disease, it may become masked by striking myoclonic jerks.
Sensorimotor peripheral neuropathy (most often predominantly demyelinatin... | [] | 17/12/2015 | 9/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
androgen | androgen | [
"Testicular Feminization",
"Testicular Feminization",
"Complete Androgen Insensitivity Syndrome (CAIS)",
"Partial Androgen Insensitivity Syndrome (PAIS)",
"Mild Androgen Insensitivity Syndrome (MAIS)",
"Androgen receptor",
"AR",
"Androgen Insensitivity Syndrome"
] | Androgen Insensitivity Syndrome | Bruce Gottlieb, Mark A Trifiro | Summary Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen ... | Complete androgen insensitivity syndrome (CAIS)
Partial androgen insensitivity syndrome (PAIS)
Mild androgen insensitivity syndrome (MAIS)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Complete androgen insensitivity syndrome (CAIS)
• Partial androgen insensitivity syndrom... | [
"M Appari, R Werner, L Wunsch, G Cario, J Demeter, O Hiort, F Rieppe, JD Brooks, PM Holterhus. Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.. J Mol Med 2009;87:623-32",
"D Becker, LM Wain, YH Chong, SJ Gosai, NK Henderson, J Milburn, V Stott, BJ ... | 24/3/1999 | 11/5/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
angelman | angelman | [
"Ubiquitin-protein ligase E3A",
"UBE3A",
"Angelman Syndrome"
] | Angelman Syndrome | Aditi I Dagli, Jennifer Mathews, Charles A Williams | Summary Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are... | ## Diagnosis
Consensus criteria for the clinical diagnosis of Angelman syndrome (AS) have been developed in conjunction with the Scientific Advisory Committee of the US Angelman Syndrome Foundation [
AS
Normal prenatal and birth history, normal head circumference at birth, no major birth defects
Delayed attainment ... | [] | 15/9/1998 | 22/4/2021 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
aniridia | aniridia | [
"Wilms Tumor-Aniridia-Genital Anomalies-Retardation (WAGR) Syndrome",
"Isolated Aniridia",
"Paired box protein Pax-6",
"PAX6",
"PAX6-Related Aniridia"
] | Mariya Moosajee, Melanie Hingorani, Anthony T Moore | Summary The diagnosis of Isolated aniridia (i.e., without systemic involvement) and a heterozygous Aniridia and one or more additional findings of WAGR syndrome and a deletion of Isolated aniridia and WAGR syndrome are inherited in an autosomal dominant manner. When the | Isolated aniridia
• Isolated aniridia
## Diagnosis
Aniridia. Complete or partial iris hypoplasia best seen on slit lamp examination. Iris translucency or abnormal architecture and pupillary abnormalities may also be seen.
Reduced visual acuity secondary to:
Absence of or reduction in the normal foveal architectu... | [] | 20/5/2003 | 18/10/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ankrd17-nds | ankrd17-nds | [
"Chopra-Amiel-Gordon Syndrome (CAGS)",
"Chopra-Amiel-Gordon Syndrome (CAGS)",
"Ankyrin repeat domain-containing protein 17",
"ANKRD17",
"ANKRD17-Related Neurodevelopmental Syndrome"
] | Abigail Sveden, Christopher T Gordon, Jeanne Amiel, Maya Chopra | Summary The diagnosis of | ## Diagnosis
Developmental delay particularly affecting speech
Intellectual disability of variable severity
Neurodevelopmental and behavioral disorders including autism spectrum disorder and attention-deficit/hyperactivity disorder
Ophthalmologic abnormalities (refractive errors and strabismus)
Growth deficiency... | [
"LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, AE Beck, JT Bennett, LM Bird, JC Carey, B Chung, RD Clark, TC Cox, C Curry, MBP Dinulos, WB Dobyns, PF Giampietro, KM Girisha, IA Glass, JM Graham, KW Gripp, CR Haldeman-Englert, BD Hall, AM Innes, JM Kalish, KM Keppler-Noreuil, K Kosaki, BA Kozel, GM Mir... | 22/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
ankrd26 | ankrd26 | [
"Thrombocytopenia 2 (THC2)",
"Thrombocytopenia 2 (THC2)",
"Ankyrin repeat domain-containing protein 26",
"ANKRD26",
"ANKRD26-Related Thrombocytopenia"
] | Juliana Perez Botero, Stefanie N Dugan, Matthew W Anderson | Summary The diagnosis of | ## Diagnosis
Lifelong mild-to-moderate thrombocytopenia (<150 x 10
Normal platelet size (mean platelet volume [fL] per reference interval of automated instrument)
Absent or minimal bleeding tendency
Family history of thrombocytopenia with an autosomal dominant pattern of inheritance
Personal or family history of m... | [
"SA Al Daama, YH Housawi, W Dridi, M Sager, FG Otieno, C Hou, L Vasquez, C Kim, L Tian, P Sleiman, H Hakonarson. A missense mutation in ANKRD26 segregates with thrombocytopenia.. Blood. 2013;122:461-2",
"M Averina, H Jensvoll, H Strand, M. Sovershaev. A novel ANKRD26 gene variant causing inherited thrombocytopeni... | 21/6/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
ano5-md | ano5-md | [
"Anoctaminopathy",
"Anoctaminopathy",
"Miyoshi Muscular Dystrophy 3 (MMD3)",
"Limb-Girdle Muscular Dystrophy R12 Anoctamin-5-Related (LGMD-R12)",
"Anoctamin-5",
"ANO5",
"ANO5-Related Muscle Disease"
] | Johanna Palmio, Sini Penttilä, Manu Jokela | Summary The spectrum of The diagnosis of | Limb-girdle muscular dystrophy R12 anoctamin-5-related (LGMD-R12)
Miyoshi muscular dystrophy 3 (MMD3)
For synonyms and outdated names see
• Limb-girdle muscular dystrophy R12 anoctamin-5-related (LGMD-R12)
• Miyoshi muscular dystrophy 3 (MMD3)
## Diagnosis
No consensus clinical diagnostic criteria for
Asymmetr... | [] | 29/11/2012 | 15/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
anophthalmia-ov | anophthalmia-ov | [
"BCL-6 corepressor",
"Beta-crystallin A4",
"Bone morphogenetic protein 4",
"Chromodomain-helicase-DNA-binding protein 7",
"Cytochrome c-type heme lyase",
"Forkhead box protein E3",
"Growth/differentiation factor 6",
"Homeobox expressed in ES cells 1",
"Homeobox protein OTX2",
"N-alpha-acetyltransf... | Microphthalmia/Anophthalmia/Coloboma Spectrum – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Tanya Bardakjian, Avery Weiss, Adele Schneider | Summary Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that resu... | ## Definition
For an adult eye, the lower 2.5% confidence limit for the TAL is approximately 21.0 mm.
In children (in whom postnatal ocular growth continues into adolescence) the lower 2.5% confidence limit must be derived from a normative plot of TAL versus age [
Length of the Neonatal and Adult Eye
Total axial le... | [
"E Araujo Júnior, TE Kawanami, LM Nardozza, HJ Milani, PS Oliveira, AF Moron. Prenatal diagnosis of bilateral anophthalmia by 3D \"reverse face\" view ultrasound and magnetic resonance imaging.. Taiwan J Obstet Gynecol. 2012;51:616-9",
"N Chassaing, A Causse, A Vigouroux, A Delahaye, JL Alessandri, O Boespflug-Ta... | 29/1/2004 | 9/7/2015 | 15/2/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ao2 | ao2 | [
"Sulfate transporter",
"SLC26A2",
"SLC26A2-Related Atelosteogenesis"
] | Andrea Superti-Furga, Sheila Unger | Summary Clinical features of The diagnosis of | ## Diagnosis
Rhizomelic limb shortening with normal-sized skull
Hitchhiker thumbs
Small chest
Protuberant abdomen
Cleft palate
Distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia)
Other usual findings are ulnar deviation of the fingers, gap between the first and sec... | [] | 30/8/2002 | 24/9/2020 | 16/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
aoa | aoa | [
"AOA1",
"AOA1",
"Aprataxin",
"APTX",
"Ataxia with Oculomotor Apraxia Type 1"
] | Ataxia with Oculomotor Apraxia Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Paula Coutinho, Clara Barbot, Paula Coutinho | Summary Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-1... | ## Diagnosis
Diagnosis of ataxia with oculomotor apraxia type 1 (AOA1) should be suspected in individuals with the following combination of clinical features and test results.
• Cerebellar ataxia, oculomotor apraxia, and areflexia followed by signs of severe peripheral neuropathy
• Childhood onset
• Slow progress... | [] | 11/6/2002 | 19/3/2015 | 28/1/2004 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
aoa2 | aoa2 | [
"AOA2",
"AOA2",
"Probable helicase senataxin",
"SETX",
"Ataxia with Oculomotor Apraxia Type 2"
] | Ataxia with Oculomotor Apraxia Type 2 | Maria-Ceu Moreira, Michel Koenig | Summary Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP). The diagnosis of AOA2 is based on... | ## Diagnosis
Ataxia with oculomotor apraxia type 2 (AOA2)
Cerebellar ataxia
Absent or diminished tendon reflexes and later a peripheral axonal sensorimotor neuropathy (>90% of individuals)
Oculomotor apraxia (~51% of individuals)
Pyramidal signs (Plantar response is either flexor or neutral.)
Dystonic posture o... | [] | 15/11/2004 | 12/7/2018 | 24/3/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ap4-def | ap4-def | [
"Adaptor Protein Complex 4 Deficiency (AP-4 Deficiency)",
"AP-4-Associated HSP",
"AP-4 Deficiency Syndrome",
"Adaptor Protein Complex 4 Deficiency (AP-4 Deficiency)",
"AP-4-Associated HSP",
"AP-4 Deficiency Syndrome",
"AP-4 Associated Hereditary Spastic Paraplegia",
"AP-4 complex subunit beta-1",
"A... | AP-4-Associated Hereditary Spastic Paraplegia | Julian Alecu, Luca Schierbaum, Darius Ebrahimi-Fakhari | Summary AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a childhood-onset and complex form of hereditary spastic paraplegia. Spastic paraparesis is a universal feature in affected individuals. Manifestations typically begin before age one year, with infants presenting with hypotonia, mild postnatal microcep... | ## Diagnosis
No consensus clinical diagnostic criteria for AP-4-associated hereditary spastic paraplegia (AP-4-HSP) have been published.
AP-4-HSP
Progressive spastic paraparesis typically with onset between ages 4 and 6 years
Early-onset global developmental delay, including delayed motor milestones, failure to... | [] | 13/12/2018 | 6/2/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
apbd | apbd | [
"1,4-alpha-glucan-branching enzyme",
"GBE1",
"GBE1-Adult Polyglucosan Body Disease"
] | H Orhan Akman, Alexander Lossos, Or Kakhlon | Summary Most individuals with classic The diagnosis of Once the | ## Diagnosis
Onset age ≥40 years
Progressive neurogenic bladder
Gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement
Sensory loss predominantly in the distal lower extremities
Mild difficulties in cognition (often executive dysfunction)
A history of infantile liv... | [
"HO Akman, O Kakhlon, J Coku, L Peverelli, H Rosenmann, L Rozenstein-Tsalkovich, J Turnbull, V Meiner, L Chama, I Lerer, S Shpitzen, E Leitersdorf, C Paradas, M Wallace, R Schiffmann, S DiMauro, A Lossos, BA Minassian. Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body dis... | 2/4/2009 | 17/9/2020 | 23/7/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
apds | apds | [
"Activated Phosphoinositide 3-Kinase Delta (PI3Kδ) Syndrome",
"APDS",
"p110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency Disease",
"PASLI Disease",
"PI3K Disease",
"PASLI Disease",
"Activated Phosphoinositide 3-Kinase Delta (PI3Kd) Syndrome",
"APDS",
"p110d-A... | Activated PI3K Delta Syndrome | Keith Sacco, Gulbu Uzel | Summary Activated PI3K delta syndrome (APDS) is characterized by a spectrum of clinical manifestations involving the immune system leading to increased susceptibility to infections (e.g., otitis media, sinusitis, bronchitis, and pneumonia), autoimmune/autoinflammatory manifestations including autoimmune cytopenias, gas... | Activated PI3K delta syndrome type 1 (APDS1)
Activated PI3K delta syndrome type 2 (APDS2)
• Activated PI3K delta syndrome type 1 (APDS1)
• Activated PI3K delta syndrome type 2 (APDS2)
## Diagnosis
No consensus clinical diagnostic criteria for activated PI3K delta syndrome (APDS) have been published.
APDS types 1 ... | [] | 30/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
apert | apert | [
"Acrocephalosyndactyly Type I",
"Fibroblast growth factor receptor 2",
"FGFR2",
"Apert Syndrome"
] | Apert Syndrome | Tara L Wenger, Anne V Hing, Kelly N Evans | Summary Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures... | ## Diagnosis
Consensus clinical diagnostic criteria for Apert syndrome have not been published.
Apert syndrome
Multisuture craniosynostosis, most commonly involving bilateral coronal sutures with variable involvement of the remaining cranial sutures
Midface retrusion with a greater degree of vertical impaction th... | [
"NB Agochukwu, BD Solomon, M Muenke. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.. Int J Pediatr Otorhinolaryngol. 2014;78:2037-47",
"T Akai, K Yamamoto, H Iizuka, S Kawakami, J Yoshida, H Kakinuma, Y Yaguchi, T Ozawa. Syndromic craniosynostosis with elbow joint contr... | 30/5/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
apob-hbl | apob-hbl | [
"Biallelic APOB-Related Familial Hypobetalipoproteinemia (FHBL)",
"Heterozygous APOB-Related Hypobetalipoproteinemia (FHBL)",
"Apolipoprotein B-100",
"APOB",
"APOB-Related Familial Hypobetalipoproteinemia"
] | John R Burnett, Amanda J Hooper, Robert A Hegele | Summary Individuals with biallelic Individuals with a heterozygous, typically truncating pathogenic variant in The diagnosis of biallelic Individuals with biallelic Individuals with heterozygous Individuals with biallelic Individuals with heterozygous | Biallelic
Heterozygous
For synonyms and outdated names see
For other genetic causes of these phenotypes, see
• Biallelic
• Heterozygous
## Diagnosis
In this
Biallelic
Heterozygous
Note: Both heterozygous and biallelic pathogenic variants in
Biallelic
Failure to thrive, with diarrhea
Fat malabsorption wit... | [] | 13/5/2021 | 9/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
apoe-leu167del | apoe-leu167del | [
"Inherited Lipemic Splenomegaly",
"Autosomal Dominant Hypercholesterolemia",
"Familial Combined Hyperlipidemia",
"Apolipoprotein E",
"APOE",
"APOE p.Leu167del-Related Lipid Disorders"
] | Nicole Greyshock, John R Guyton, Siby Sebastian, Daniel Okorodudu | Summary Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevat... | Inherited lipemic splenomegaly
Autosomal dominant hypercholesterolemia
Familial combined hyperlipidemia
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Inherited lipemic splenomegaly
• Autosomal dominant hypercholesterolemia
• Familial combined hyperlipidemia
## Diagnosis
... | [] | 12/6/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
aprt-def | aprt-def | [
"2,8-Dihydroxyadeninuria",
"APRT Deficiency",
"2,8-Dihydroxyadeninuria",
"APRT Deficiency",
"Adenine phosphoribosyltransferase",
"APRT",
"Adenine Phosphoribosyltransferase Deficiency"
] | Adenine Phosphoribosyltransferase Deficiency | Vidar Orn Edvardsson, Amrik Sahota, Runolfur Palsson | Summary Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury episodes and progressive chronic kid... | ## Diagnosis
Adenine phosphoribosyltransferase (APRT) deficiency (also known as 2,8-dihydroxyadeninuria)
Kidney stone disease and renal colic
Chronic kidney disease (CKD)
Crystal nephropathy (confirmed by kidney biopsy; see
Reddish-brown diaper stain in infants and young children
Allograft dysfunction following... | [
"Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease.. Kidney Int 2013:1-150"
] | 30/8/2012 | 26/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
arg1 | arg1 | [
"ARG1 Deficiency",
"Arginase-1 Deficiency",
"Hyperargininemia",
"ARG1 Deficiency",
"Arginase-1 Deficiency",
"Hyperargininemia",
"Arginase-1",
"ARG1",
"Arginase Deficiency"
] | Arginase Deficiency | Angela Sun, Eric A Crombez, Derek Wong | Summary Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three ye... | ## Diagnosis
NBS for arginase deficiency is primarily based on quantification of the analyte arginine on dried blood spots.
Arginine values above the cutoff reported by the screening laboratory are considered positive and require follow-up biochemical testing (see
If these studies support the diagnosis of arginase... | [] | 21/10/2004 | 28/5/2020 | 5/10/2010 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
args-aciduria | args-aciduria | [
"Argininosuccinic Acid Lyase Deficiency (ASLD)",
"Argininosuccinic Aciduria (ASA)",
"Argininosuccinic Aciduria (ASA)",
"Argininosuccinic Acid Lyase Deficiency (ASLD)",
"Argininosuccinate lyase",
"ASL",
"Argininosuccinate Lyase Deficiency"
] | Argininosuccinate Lyase Deficiency | Sandesh CS Nagamani, Lindsay C Burrage, Brendan Lee | Summary Argininosuccinate lyase deficiency (ASLD), an inborn error of urea synthesis, may present as a neonatal- or late-onset disease. The diagnosis of ASLD can be established by identification of increased argininosuccinate in plasma or urine; or identification of biallelic pathogenic variants in ASLD is inherited in... | ## Diagnosis
Suggested guidelines for the diagnosis of argininosuccinate lyase deficiency (ASLD) have been published [
ASLD should be suspected in:
An infant with
An infant with
An individual at any age with
NBS for ASLD is primarily based on use of dried blood spots collected between 24 and 72 hours after birth ... | [] | 3/2/2011 | 14/8/2025 | 2/2/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
arid1b-dis | arid1b-dis | [
"ARID1B Intellectual Disability with Nonspecific Dysmorphic Features",
"AT-rich interactive domain-containing protein 1B",
"ARID1B",
"ARID1B-Related Disorder"
] | Samantha A Vergano, Pleuntje J van der Sluijs, Gijs Santen | Summary The diagnosis of | For other genetic causes of these phenotypes see
See also
## Diagnosis
Heterozygous pathogenic variants in
Note: The information presented in the Coffin-Siris syndrome
Fifth-digit nail and/or distal phalanx hypoplasia (although other digits may be affected) OR aplasia of the hands or feet
Developmental or cogniti... | [
"S Ben-Salem, N Sobreira, NA Akawi, AM Al-Shamsi, A John, T Pramathan, D Valle, BR Ali, L Al-Gazali. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.. Am J Med Genet Part A 2016;170A:156-61",
"N Bögershausen, B Wollnik. Mutational landscapes and phenotypic... | 23/5/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
arsacs | arsacs | [
"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay",
"Autosomal Recessive Spastic Ataxia Type 6",
"ATX/HSP-SACS",
"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay",
"Autosomal Recessive Spastic Ataxia Type 6",
"ATX/HSP-SACS",
"Sacsin",
"SACS",
"ARSACS"
] | ARSACS | Sascha Vermeer, Bart P van de Warrenburg, Erik-Jan Kamsteeg, Bernard Brais, Matthis Synofzik | Summary The diagnosis of ARSACS is established in a proband with suggestive clinical findings and biallelic pathogenic variants in ARSACS is inherited in an autosomal recessive manner. If each parent is known to be heterozygous for a | ## Diagnosis
ARSACS
Slowly progressive cerebellar ataxia with difficulty walking and gait unsteadiness noted as early as age 12 to 18 months, or appearing later
Spasticity of the lower limbs
Peripheral neuropathy with distal wasting and weakness
Brain MRI findings of vermis atrophy with upper predominance and/or a... | [
"V Ady, B Toscano-Márquez, M Nath, PK Chang, J Hui, A Cook, F Charron, R Larivière, B Brais, RA McKinney, AJ Watt. Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.. J Physiol. 2018;596:4253-67",
"Z Ali, J Klar, M Jameel, K Khan, A Fatima, R Raininko, S Baig, N. Dahl.... | 9/12/2003 | 2/1/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
arterial-t | arterial-t | [
"Solute carrier family 2, facilitated glucose transporter member 10",
"SLC2A10",
"Arterial Tortuosity Syndrome"
] | Arterial Tortuosity Syndrome | Bert Callewaert, Anne De Paepe, Paul Coucke | Summary Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hypere... | ## Diagnosis
No formal diagnostic criteria have been established for arterial tortuosity syndrome (ATS).
Arterial tortuosity syndrome
Stenosis of the main and peripheral pulmonary arteries
Focal stenosis of the aorta and large stenotic stretches
Aortic and arterial aneurysms, dissections, and ischemic events
Larg... | [
"CS Adamo, A Beyens, A Schiavinato, DR Keene, SF Tufa, M Mörgelin, J Brinckmann, T Sasaki, A Niehoff, M Dreiner, L Pottie, L Muiño-Mosquera, EY Gulec, A Gezdirici, P Braghetta, P Bonaldo, R Wagener, M Paulsson, H Bornaun, R De Rycke, M De Bruyne, F Baeke, WP Devine, B Gangaram, A Tam, M Balasubramanian, S Ellard, S... | 13/11/2014 | 19/11/2020 | 23/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
arts | arts | [
"PRS Deficiency",
"PRS Deficiency",
"Charcot-Marie-Tooth Neuropathy X Type 5 (CMTX5)",
"DFNX1 Nonsyndromic Sensorineural Hearing Loss (DFN2)",
"Arts Syndrome",
"Ribose-phosphate pyrophosphokinase 1",
"PRPS1",
"Phosphoribosylpyrophosphate Synthetase Deficiency"
] | Phosphoribosylpyrophosphate Synthetase Deficiency | Arjan PM de Brouwer, John Christodoulou | Summary Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). In affec... | With the current widespread use of multigene panels and comprehensive genomic testing based on an unbiased (i.e., not phenotype-driven) approach, it has become apparent that the phenotypic continuum associated with phosphoribosylpyrophosphate synthetase (PRS) deficiency is comprised of clusters encompassing three previ... | [
"B Almoguera, S He, M Corton, P Fernandez-San Jose, F Blanco-Kelly, MI López-Molina, B García-Sandoval, J Del Val, Y Guo, L Tian, X Liu, L Guan, RJ Torres, JG Puig, H Hakonarson, X Xu, B Keating, C Ayuso. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.. Orphanet J Ra... | 21/10/2008 | 8/6/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
arvd | arvd | [
"Arrhythmogenic Right Ventricular Dysplasia (ARVD)",
"Desmin",
"Desmocollin-2",
"Desmoglein-2",
"Desmoplakin",
"Junction plakoglobin",
"Phospholamban",
"Plakophilin-2",
"Transmembrane protein 43",
"DES",
"DSC2",
"DSG2",
"DSP",
"JUP",
"PKP2",
"PLN",
"TMEM43",
"Arrhythmogenic Right V... | Arrhythmogenic Right Ventricular Cardiomyopathy Overview | Elizabeth McNally, Heather MacLeod, Lisa Dellefave-Castillo | Summary The purpose of this overview is to: Describe the Review the Provide an Review Inform | ## Clinical Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary cardiomyopathy that is often diagnosed after an individual presents with arrhythmia findings. Presenting manifestations include heart palpitations, syncope, or even sudden... | [] | 18/4/2005 | 11/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
as-def | as-def | [
"ASNS Deficiency",
"ASNS Deficiency",
"Asparagine synthetase [glutamine-hydrolyzing]",
"ASNS",
"Asparagine Synthetase Deficiency"
] | Asparagine Synthetase Deficiency | Majid Alfadhel, Ayman W El-Hattab | Summary Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of... | ## Diagnosis
Asparagine synthetase deficiency (ASD)
Congenital and progressive microcephaly
Severe global developmental delay
Hypotonia followed by spastic quadriplegia, seizures, jitteriness, and hyperekplexia
Intrauterine growth restriction with subsequent feeding difficulties, failure to thrive, and short sta... | [] | 20/9/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
asah1 | asah1 | [
"Farber Disease",
"Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME)",
"Spinal Muscular Atrophy without Epilepsy",
"Progressive Adult-Onset Brachydactyly Due to Osteolysis",
"Acid ceramidase",
"ASAH1",
"ASAH1-Related Disorders"
] | David A Dyment, Steffany AL Bennett, Jeffrey A Medin, Thierry Levade | Summary The spectrum of Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less ... | Farber disease
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)
Spinal muscular atrophy without epilepsy
Progressive adult-onset brachydactyly due to osteolysis
For synonyms and outdated names see
For other genetic causes of this phenotype, see
• Farber disease
• Spinal muscular atrophy with... | [
"SK Abul-Haj, DG Martz, WF Douglas, LJ Geppert. Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material.. J Pediatr 1962;61:221-32",
"F Al Jasmi. A novel mutation in an atypical presentation of the rare infantile Farber disease.. Brain Dev 2012;34:53... | 29/3/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
aspm-pm | aspm-pm | [
"ASPM Microcephalia Vera",
"Microcephaly Primary Hereditary 5 (MCPH5)",
"ASPM Microcephalia Vera",
"Microcephaly Primary Hereditary (MCPH 5)",
"Abnormal spindle-like microcephaly-associated protein",
"ASPM",
"ASPM Primary Microcephaly"
] | Alain Verloes, Séverine Drunat, Sandrine Passemard | Summary The diagnosis of | ## Diagnosis
Congenital microcephaly (usually identified before birth by ultrasound examination) with an occipitofrontal circumference ≥2 standard deviations (SD) below the mean at birth, and >3.5 SD below the mean before age one year
Mild intrauterine growth restriction with postnatal catch up (Growth restriction ... | [] | 2/4/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
asxl3 | asxl3 | [
"Bainbridge-Ropers Syndrome (BRPS)",
"Bainbridge-Ropers Syndrome (BRPS)",
"Putative Polycomb group protein ASXL3",
"ASXL3",
"ASXL3-Related Disorder"
] | Meena Balasubramanian, Schaida Schirwani | Summary The diagnosis of | ## Diagnosis
Formal clinical diagnostic criteria for
Developmental delay (DD) or intellectual disability, typically in the moderate to severe range; AND
Any of the following features presenting in infancy or childhood:
Speech and language delay and/or absent speech
Autism spectrum disorder or autistic traits
Dysm... | [] | 5/11/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
ataxia-telangiectas | ataxia-telangiectas | [
"Classic Ataxia-Telangiectasia",
"Variant Ataxia-Telangiectasia",
"Serine-protein kinase ATM",
"ATM",
"Ataxia-Telangiectasia"
] | Ataxia-Telangiectasia | Stefanie Veenhuis, Nienke van Os, Corry Weemaes, Erik-Jan Kamsteeg, Michèl Willemsen | Summary The phenotypic spectrum of ataxia-telangiectasia (A-T), a multisystem disorder, is a continuum ranging from classic A-T at the severe end and variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant A-T on this spectrum helps understand differences in disease course, rate of pr... | Ataxia-Telangiectasia: Phenotypic Spectrum
A-T = ataxia-telangiectasia
## Diagnosis
No consensus clinical diagnostic criteria for ataxia-telangiectasia (A-T) have been published.
The two scenarios in which A-T may be considered are
Newborn screening (NBS) for severe combined immunodeficiency (SCID), a severe but t... | [] | 19/3/1999 | 5/10/2023 | 10/4/2003 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
ataxias | ataxias | [
"Alpha-tocopherol transfer protein",
"Angiopoietin-related protein 3",
"Anoctamin-10",
"Apolipoprotein B-100",
"Aprataxin",
"Ataxin-1",
"Ataxin-10",
"Ataxin-2",
"Ataxin-3",
"Ataxin-7",
"Ataxin-8",
"Atrophin-1",
"A-type voltage-gated potassium channel KCND3",
"Atypical kinase ADCK3, mitocho... | Hereditary Ataxia Overview | Susan Perlman | Summary The purpose of this overview is to: Briefly describe the Review common and notable Provide an Review Inform | ## Clinical Characteristics of Primary Hereditary Ataxia
For the purposes of this chapter, which deals exclusively with hereditary ataxias, the term "primary hereditary ataxia" has been used to designate hereditary ataxias for which an adult with ataxia or the caregivers of a child with ataxia would seek diagnosis an... | [] | 28/10/1998 | 16/6/2022 | 20/2/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
atn1-ndd | atn1-ndd | [
"ATN1-Related Neurodevelopmental Condition",
"CHEDDA (Congenital Hypotonia, Epilepsy, Developmental Delay, Digit Abnormalities)",
"CHEDDA (Congenital Hypotonia, Epilepsy, Developmental Delay, Digit Abnormalities)",
"ATN1-Related Neurodevelopmental Condition",
"Atrophin-1",
"ATN1",
"ATN1-Related Neurodev... | Chloe Whitton, Elizabeth Palmer, Fowzan Alkuraya | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Developmental delay (DD) or intellectual disability (ID) that is typically profound and rarely mild
AND
Any of the following presenting in infancy or childhood:
Generalized hypotonia of infancy
Severe feeding difficulties
Respiratory complications such... | [
"EE Palmer, S Hong, F Al Zahrani, MO Hashem, FA Aleisa, HMJ Ahmed, T Kandula, R Macintosh, AE Minoche, C Puttick, V Gayevskiy, AP Drew, MJ Cowley, M Dinger, JA Rosenfeld, R Xiao, MT Cho, SF Yakubu, LB Henderson, MJ Guillen Sacoto, A Begtrup, M Hamad, M Shinawi, MV Andrews, MC Jones, K Lindstrom, RE Bristol, S Kayan... | 25/8/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
au-kline | au-kline | [
"HNRNPK-Related Neurodevelopmental Disorder",
"Au-Kline-Okamoto Syndrome",
"Okamoto Syndrome",
"HNRNPK-Related Neurodevelopmental Disorder",
"Au-Kline-Okamoto Syndrome",
"Okamoto Syndrome",
"Heterogeneous nuclear ribonucleoprotein K",
"HNRNPK",
"Au-Kline Syndrome"
] | Au-Kline Syndrome | Ping-Yee Billie Au, Vanda McNiven, Lindsay Phillips, A Micheil Innes, Antonie D Kline | Summary Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and downturned mouth. Congenita... | ## Diagnosis
Clinical diagnostic criteria for Au-Kline syndrome (AKS) have been proposed [
AKS
Long palpebral fissures
Ptosis
Shallow orbits
Deeply grooved tongue
Broad nose with wide nasal bridge and thick alae nasi
Downturned mouth, often described as an M-shaped Cupid's bow
AND
Global developmental delay o... | [] | 18/4/2019 | 1/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
authors | authors | [] | GeneReviews Authors | [] | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||||||
aved | aved | [
"Ataxia with Isolated Vitamin E Deficiency",
"AVED",
"AVED",
"Ataxia with Isolated Vitamin E Deficiency",
"Alpha-tocopherol transfer protein",
"TTPA",
"Ataxia with Vitamin E Deficiency"
] | Ataxia with Vitamin E Deficiency | Markus Schuelke | Summary Untreated ataxia with vitamin E deficiency (AVED) generally manifests between ages five and 15 years. The first manifestations include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head... | ## Diagnosis
No consensus clinical diagnostic criteria for ataxia with vitamin E deficiency (AVED) have been published.
AVED
Onset between ages five and 15 years
Progressive cerebellar findings including the following:
Gait ataxia
Clumsiness of the hands
Loss of proprioception (especially distal joint position... | [] | 20/5/2005 | 16/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ayme-gripp | ayme-gripp | [
"Transcription factor Maf",
"MAF",
"Aymé-Gripp Syndrome"
] | Aymé-Gripp Syndrome | Shivarajan Manickavasagam Amudhavalli, Randi Gadea, Karen Gripp | Summary Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appear... | ## Diagnosis
Aymé-Gripp syndrome is classically defined as the triad of cataract, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities [
Aymé-Gripp syndrome
Distinctive facial features (
Brachycephaly
Flat facial appearance
Short nose
Long philtrum... | [
"E Alkhunaizi, RK Koenekoop, C Saint-Martin, L Russell. Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.. Am J Med Genet A. 2019;179:2233-6",
"SM Amudhavalli, R Hanson, B Angle, K Bontempo, KW Gripp. Further delineation of Aymé-Gripp syndrome and use of automated facial... | 6/2/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
b-thal | b-thal | [
"Cooley's Anemia",
"Mediterranean Anemia",
"Cooley's Anemia",
"Mediterranean Anemia",
"Beta-Thalassemia Minor",
"Beta-Thalassemia Intermedia",
"Beta-Thalassemia Major",
"Hemoglobin subunit beta",
"HBB",
"Beta-Thalassemia"
] | Beta-Thalassemia | Arielle L Langer | Summary Beta-thalassemia (β-thalassemia) has two clinically significant forms, β-thalassemia major and β-thalassemia intermedia, caused by absent or reduced synthesis of the hemoglobin subunit beta (beta globin chain). Individuals with β-thalassemia major present between ages six and 24 months with pallor due to severe... | Beta-thalassemia major
Beta-thalassemia intermedia
Beta-thalassemia minor: heterozygote (carrier) for β-thalassemia
• Beta-thalassemia major
• Beta-thalassemia intermedia
• Beta-thalassemia minor: heterozygote (carrier) for β-thalassemia
## Diagnosis
Pallor
Poor weight gain
Stunted growth
Mild jaundice
Hep... | [] | 28/9/2000 | 20/7/2023 | 8/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
bachmann-bupp | bachmann-bupp | [
"ODC1-Related Neurodevelopmental Disorder",
"ODC1-Related Neurodevelopmental Disorder",
"Ornithine decarboxylase",
"ODC1",
"Bachmann-Bupp Syndrome"
] | Bachmann-Bupp Syndrome | Caleb Bupp, Julianne Michael, Elizabeth VanSickle, Surender Rajasekaran, André Stephan Bachmann | Summary Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair i... | ## Diagnosis
No consensus clinical diagnostic criteria for Bachmann-Bupp syndrome (BABS) have been published.
BABS
Prenatal history of polyhydramnios
An unusual pattern of noncongenital alopecia due to sudden-onset hair loss shortly after birth with congenitally absent or sparse eyebrows and eyelashes
Developmen... | [
"LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, AE Beck, JT Bennett, LM Bird, JC Carey, B Chung, RD Clark, TC Cox, C Curry, MBP Dinulos, WB Dobyns, PF Giampietro, KM Girisha, IA Glass, JM Graham, KW Gripp, CR Haldeman-Englert, BD Hall, AM Innes, JM Kalish, KM Keppler-Noreuil, K Kosaki, BA Kozel, GM Mir... | 25/8/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
bap1-tpds | bap1-tpds | [
"BAP1 Cancer Syndrome",
"Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms (COMMON Syndrome)",
"BAP1 Cancer Syndrome",
"Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms (COMMON Syndrome)",
"Ubiquitin carboxyl-terminal hyd... | Robert Pilarski, Lindsey Byrne, Maria I Carlo, Helen Hanson, Colleen Cebulla, Mohamed Abdel-Rahman | Summary The diagnosis of | ## Diagnosis
No diagnostic criteria have been published for
Two or more confirmed
One
* Excluding two basal cell cancers and/or cutaneous melanomas, given their high frequency in the general population
Confirmed
Uveal (eye) melanoma (UM)
Malignant mesothelioma (MMe)
Cutaneous melanoma (CM)
Renal cell carcinoma... | [] | 13/10/2016 | 5/12/2024 | 24/3/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
baraitser-winter | baraitser-winter | [
"Actin, cytoplasmic 1",
"Actin, cytoplasmic 2",
"ACTB",
"ACTG1",
"Baraitser-Winter Cerebrofrontofacial Syndrome"
] | Baraitser-Winter Cerebrofrontofacial Syndrome | Alain Verloes, Séverine Drunat, Daniela Pilz, Nataliya Di Donato | Summary Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory i... | ## Diagnosis
No consensus clinical diagnostic criteria for Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome have been published.
BWCFF syndrome
Typical craniofacial features (widely spaced eyes, bulbous nose with broad nasal tip and prominent nasal bridge, congenital nonmyopathic ptosis, prominent metopic rid... | [
"M Baumann, EM Beaver, M Palomares-Bralo, F Santos-Simarro, P Holzer, G Povysil, T Müller, T Valovka, AR Janecke. Further delineation of putative ACTB loss-of-function variants: a 4-patient series.. Hum Mutat. 2020;41:753-8",
"OF Chacon-Camacho, T Barragán-Arévalo, CE Villarroel, M Almanza-Monterrubio, JC Zenteno... | 19/11/2015 | 24/3/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
barth | barth | [
"Tafazzin",
"TAFAZZIN",
"Barth Syndrome"
] | Barth Syndrome | Carlos Ferreira, Germaine Pierre, Reid Thompson, Hilary Vernon | Abstract Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years... | ## Diagnosis
Formal clinical diagnostic criteria for Barth syndrome have not been established.
Barth syndrome is an X-linked condition in which heterozygous females typically do not express clinical or biochemical features, although rare instances of affected females have been reported.
Barth syndrome
At least on... | [
"LC Adès, AK Gedeon, MJ Wilson, M Latham, MW Partington, JC Mulley, J Nelson, K Lui, DO Sillence. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.. Am J Med Genet. 1993;45:327-34",
"SS Adwani, BF Whitehead, PG Rees, A Morris, DM Turnball, MJ Elliott, MR de Leval. Heart trans... | 9/10/2014 | 9/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
bbs | bbs | [
"Biedl-Bardet Syndrome",
"ADP-ribosylation factor-like protein 6",
"BBSome complex assembly protein BBS10",
"BBSome complex member BBS1",
"BBSome complex member BBS2",
"BBSome complex member BBS4",
"BBSome complex member BBS5",
"BBSome complex member BBS7",
"BBSome-interacting protein 1",
"Centros... | Bardet-Biedl Syndrome Overview | RaeLynn Forsyth, Meral Gunay-Aygun | Summary The purpose of this overview is to: Describe the Review the genetic Provide an Review Inform | ## Clinical Characteristics of Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily characterized by retinal cone-rod dystrophy, obesity and related complications, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism and/or genitourinary malformation... | [] | 14/7/2003 | 23/7/2020 | 23/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
bcl11a-id | bcl11a-id | [
"Dias-Logan Syndrome",
"Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin",
"Dias-Logan Syndrome",
"Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin",
"BCL11 transcription factor A",
"BCL11A",
"BCL11A-Related Intellectual Disability"
] | Angela Peron, Kimberley Bradbury, David H Viskochil, Cristina Dias | Summary The diagnosis of | ## Diagnosis
Formal clinical diagnostic criteria for
Mild-to-severe developmental delay or intellectual disability; AND
Any of the following features presenting in infancy or childhood:
Microcephaly
Craniofacial features including flat midface, small nares, thin vermilion of the upper lip and everted vermilion o... | [
"C Badens, N Martini, S Courrier, V DesPortes, R Touraine, N Levy, P. Edery. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.. Am J Med Genet A. 2006;140:2212-5",
"H Bagheri, C Badduke, Y Qiao, R Colnaghi, I Abramowicz, D Alcantara, C D... | 26/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
bcns | bcns | [
"Basal Cell Nevus Syndrome (BCNS)",
"Gorlin Syndrome",
"NBCCS",
"Gorlin Syndrome",
"Basal Cell Nevus Syndrome (BCNS)",
"NBCCS",
"Protein patched homolog 1",
"Suppressor of fused homolog",
"PTCH1",
"SUFU",
"Nevoid Basal Cell Carcinoma Syndrome"
] | Nevoid Basal Cell Carcinoma Syndrome | D Gareth Evans | Summary Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal b... | ## Diagnosis
No consensus clinical diagnostic criteria for nevoid basal cell carcinoma syndrome (NBCCS) have been published. Diagnostic criteria for NBCCS have been proposed [
NBCCS
Childhood medulloblastoma (also called primitive neuroectodermal tumor)
Note: A consensus meeting consisting of US-based experts... | [] | 20/6/2002 | 22/2/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
beck-fahrner | beck-fahrner | [
"TET3-BEFAHRS",
"TET3 Deficiency",
"TET3 Deficiency",
"TET3-BEFAHRS",
"Methylcytosine dioxygenase TET3",
"TET3",
"TET3-Related Beck-Fahrner Syndrome"
] | Jill A Fahrner | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Mild-to-severe developmental delay or intellectual disability
AND
Any of the following features presenting in infancy or childhood:
Generalized hypotonia of infancy
Infant feeding difficulties
Movement disorders, including motor tics, myoclonic jerks, ... | [] | 18/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
bethlem | bethlem | [
"COL6-Related Dystrophies (COL6-RDs)",
"COL6-Related Dystrophies (COL6-RDs)",
"Bethlem Muscular Dystrophy",
"Intermediate COL6-RD",
"Ullrich Congenital Muscular Dystrophy (UCMD)",
"Collagen alpha-1(VI) chain",
"Collagen alpha-2(VI) chain",
"Collagen alpha-3(VI) chain",
"COL6A1",
"COL6A2",
"COL6A... | Collagen VI-Related Dystrophies | A Reghan Foley, Payam Mohassel, Sandra Donkervoort, Véronique Bolduc, Carsten G Bönnemann | Summary Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate ... | Bethlem muscular dystrophy
Ullrich congenital muscular dystrophy (UCMD)
Intermediate COL6-RD
For synonyms and outdated names see
Disorders included in the
• Bethlem muscular dystrophy
• Ullrich congenital muscular dystrophy (UCMD)
• Intermediate COL6-RD
## Diagnosis
Formal diagnostic criteria for collagen VI-r... | [
"S Aguti, V Bolduc, P Ala, M Turmaine, CG Bönnemann, F Muntoni, H Zhou. Exon-skipping oligonucleotides restore functional collagen vi by correcting a common COL6A1 mutation in Ullrich CMD.. Mol Ther Nucleic Acids 2020;21:205-16",
"V Allamand, L Merlini, K Bushby. Consortium for Collagen VI-Related Myopathies. 166... | 25/6/2004 | 11/3/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
bfns | bfns | [
"KCNQ2-Related Self-Limited Familial Neonatal Epilepsy (SLFNE)",
"KCNQ2-Related Neonatal-Onset Developmental and Epileptic Encephalopathy (NEO-DEE)",
"KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic Myoclonus",
"KCNQ2-Related Non-Neonatal-Onset Developmental and Epileptic Encephalopathy",
"KCNQ2-Re... | Francesco Miceli, Maria Virginia Soldovieri, Sarah Weckhuysen, Edward Cooper, Maurizio Taglialatela | Summary The diagnosis of a | Self-limited familial neonatal epilepsy (SLFNE)
Neonatal-onset developmental and epileptic encephalopathy (NEO-DEE)
Neonatal encephalopathy with non-epileptic myoclonus
Non-neonatal-onset developmental and epileptic encephalopathy
Isolated intellectual disability
For synonyms and outdated names see
For other gene... | [
"A Abidi, JJ Devaux, F Molinari, G Alcaraz, FX Michon, J Sutera-Sardo, H Becq, C Lacoste, C Altuzarra, A Afenjar, C Mignot, D Doummar, B Isidor, SN Guyen, E Colin, S De La Vaissière, D Haye, A Trauffler, C Badens, F Prieur, G Lesca, L Villard, M Milh, L Aniksztejn. A recurrent KCNQ2 pore mutation causing early onse... | 27/4/2010 | 19/5/2022 | 27/9/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
bgc | bgc | [
"Platelet-derived growth factor receptor beta",
"Platelet-derived growth factor subunit B",
"Sodium-dependent phosphate transporter 2",
"Solute carrier family 53 member 1",
"PDGFB",
"PDGFRB",
"SLC20A2",
"XPR1",
"Primary Familial Brain Calcification (PFBC)"
] | Primary Familial Brain Calcification | Eliana Marisa Ramos, Joao Oliveira, Maria J Sobrido, Giovanni Coppola | Summary Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth d... | ## Diagnosis
Primary familial brain calcification (PFBC)
Cerebellum, the brain stem, centrum semiovale, and subcortical white matter may also be affected [
MRI provides better anatomic detail than CT but is less sensitive in detecting calcification. Calcified lesions on MRI produce various levels of signal intensiti... | [] | 18/4/2004 | 24/8/2017 | 16/10/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
bgd-biotin | bgd-biotin | [
"Biotin-Responsive Basal Ganglia Disease (BBGD)",
"BTBGD",
"BTRBGD",
"Thiamine Metabolism Dysfunction Syndrome 2",
"Thiamine Transporter-2 Deficiency",
"Biotin-Responsive Basal Ganglia Disease (BBGD)",
"BTBGD",
"BTRBGD",
"Thiamine Metabolism Dysfunction Syndrome 2",
"Thiamine Transporter-2 Deficie... | Biotin-Thiamine-Responsive Basal Ganglia Disease | Brahim Tabarki, Amal Al-Hashem, Juan Darío Ortigoza-Escobar, Hind Alsharhan, Majid Alfadhel | Summary Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in early infancy, childhood, or adulthood. Early-infantile BTBGD presents before age three months with vomiting, feeding difficulties, encephalopathy, hypotonia, seizures, and respiratory failure. Classic BTBGD presents between ages three and ... | Early-infantile BTBGD
Classic (childhood) BTBGD
Adult Wernicke-like encephalopathy BTBGD
• Early-infantile BTBGD
• Classic (childhood) BTBGD
• Adult Wernicke-like encephalopathy BTBGD
## Diagnosis
No consensus clinical diagnostic criteria for biotin-thiamine-responsive basal ganglia disease (BTBGD) have been pub... | [] | 21/11/2013 | 9/1/2025 | 20/8/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
bgs | bgs | [
"ATP-dependent DNA helicase Q4",
"RECQL4",
"Baller-Gerold Syndrome"
] | Baller-Gerold Syndrome | Lionel Van Maldergem, Juliette Piard, Lidia Larizza, Lisa L Wang | Summary Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb ... | ## Diagnosis
Baller-Gerold syndrome
When the coronal sutures are fused, the orbit is pulled forward. The coronal sutures cannot be discerned on the frontal view, and the same holds true for the lambdoidal sutures.
Note: Radiographs may be necessary for confirmation of minor radial ray malformations.
The diagnosis... | [
"F Baller. Radiusaplasie und Inzucht.. Z Menschl Vererb Konstitutionsl 1950;29:782-90",
"A Beghini, P Castorina, G Roversi, P Modiano, L Larizza. RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.. Am J Med Genet A. 2003;120A:395-9",
"ML Bochman. Roles of DNA... | 13/8/2007 | 19/4/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
bhd | bhd | [
"Hornstein-Knickenberg Syndrome",
"Hornstein-Knickenberg Syndrome",
"Folliculin",
"FLCN",
"Birt-Hogg-Dube Syndrome"
] | Birt-Hogg-Dubé Syndrome | Elke C Sattler, Ortrud K Steinlein | Summary The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts / history of pneumothorax, renal cysts, and various types of renal tumors. Disease severity... | ## Diagnosis
Clinical diagnostic criteria for the diagnosis of Birt-Hogg-Dubé syndrome (BHDS) have been published [
BHDS
Primary spontaneous pneumothorax
Multiple lung cysts (particular in the lower lung zone) without known cause
Early-onset renal cell cancer (age <50 years)
Multifocal or bilateral renal ce... | [] | 27/2/2006 | 5/12/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
bietti-cd | bietti-cd | [
"Bietti Crystalline Corneoretinal Dystrophy",
"Bietti Crystalline Retinopathy",
"Bietti Crystalline Retinopathy",
"Bietti Crystalline Corneoretinal Dystrophy",
"Cytochrome P450 4V2",
"CYP4V2",
"Bietti Crystalline Dystrophy"
] | Bietti Crystalline Dystrophy | Mauricio Vargas, Amanda Mitchell, Paul Yang, Richard Weleber | Summary Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms sim... | ## Diagnosis
The diagnosis of BCD, a chorioretinal degeneration, is based on the clinical findings of the typical crystalline deposits in the cornea and retina. BCD is one of few ocular diseases for which the diagnosis can be made with a high degree of confidence by careful examination alone.
Bietti crystalline dystr... | [
"GDN Astuti, V Sun, M Bauwens, D Zobor, BP Leroy, A Omar, B Jurklies, I Lopez, H Ren, V Yazar, C Hamel, U Kellner, B Wissinger, S Kohl, ED Baere, RWJ Collin, RK Koenekoop. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.. Mol Genet Genomic Med 2015;3:14-29",
"LS Atma... | 12/4/2012 | 7/2/2019 | 14/6/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
biotin | biotin | [
"Late-Onset Multiple Carboxylase Deficiency",
"Late-Onset Multiple Carboxylase Deficiency",
"Biotinidase",
"BTD",
"Biotinidase Deficiency"
] | Biotinidase Deficiency | Barry Wolf | Summary Individuals with biotinidase deficiency who are diagnosed before they have developed symptoms (e.g., by newborn screening) and who are treated with biotin have normal development. Symptoms including seizures, developmental delay, cutaneous manifestations (skin rash, alopecia), optic atrophy, hearing loss, and r... | ## Diagnosis
No consensus clinical diagnostic criteria for biotinidase deficiency have been published.
NBS for biotinidase deficiency is primarily based on either fluorescent or colorimetric tests for biotinidase activity on dried blood spots.
Putative positive samples have biotinidase activities below cutoff values... | [] | 24/3/2000 | 25/5/2023 | 10/2/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
bloom | bloom | [
"RecQ-like DNA helicase BLM",
"BLM",
"Bloom Syndrome"
] | Bloom Syndrome | Katherine Langer, Christopher M Cunniff, Nicole Kucine | Summary Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual a... | ## Diagnosis
Bloom syndrome (BSyn)
Prenatal-onset growth deficiency that usually affects linear growth, weight gain, and head circumference and that persists into infancy, childhood, and adulthood
Moderate-to-severe growth deficiency and a sun-sensitive, erythematous rash that commonly involves the face and appear... | [] | 22/3/2006 | 12/10/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
bofs | bofs | [
"BOF Syndrome",
"BOF Syndrome",
"Transcription factor AP-2-alpha",
"TFAP2A",
"Branchiooculofacial Syndrome"
] | Branchiooculofacial Syndrome | Chad R Haldeman-Englert, Angela E Lin, Jeff M Milunsky | Summary Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, co... | ## Diagnosis
There are no formal diagnostic guidelines for branchiooculofacial syndrome (BOFS) developed by consensus panels, algorithms using a hierarchy of clinical findings, or evidence-based test standards. Diagnostic criteria have been proposed (see Table I in
BOFS
Vary from barely perceptible thin skin or hair... | [] | 31/5/2011 | 28/9/2023 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
bohring-opitz | bohring-opitz | [
"Oberklaid-Danks Syndrome",
"Oberklaid-Danks Syndrome",
"Polycomb group protein ASXL1",
"ASXL1",
"Bohring-Opitz Syndrome"
] | Bohring-Opitz Syndrome | Bianca Russell, Wen-Hann Tan, John M Graham | Summary Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with f... | ## Diagnosis
Prior to the identification of the molecular cause of Bohring-Opitz syndrome (BOS),
Bohring-Opitz syndrome
Microcephaly or trigonocephaly / prominent (but not necessarily fused) metopic ridge
Glabellar and eyelid nevus flammeus (simplex) that fades with age
Prominent globes
Cleft lip
Palatal anomali... | [] | 15/2/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
bor | bor | [
"Branchiootorenal Syndrome (BORS)",
"Branchiootic Syndrome (BOS)",
"Homeobox protein SIX1",
"Protein phosphatase EYA1",
"EYA1",
"SIX1",
"Branchiootorenal Spectrum Disorder"
] | Branchiootorenal Spectrum Disorder | Richard JH Smith, Hela Azaiez | Summary Branchiootorenal spectrum disorder (BORSD) is characterized by second branchial arch anomalies (e.g., preauricular pits and branchial cleft sinuses or cysts) and malformations of the outer, middle, and inner ear associated with conductive, sensorineural, and/or mixed hearing impairment. Congenital anomalies of ... | Branchiootorenal syndrome (BORS)
Branchiootic syndrome (BOS)
• Branchiootorenal syndrome (BORS)
• Branchiootic syndrome (BOS)
## Diagnosis
The clinical diagnostic criteria for branchiootorenal spectrum disorder (BORSD) outlined by
Branchiootorenal spectrum disorder (BORSD)
Branchial cleft sinus tracts appear... | [] | 19/3/1999 | 26/6/2025 | 27/3/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
bpan | bpan | [
"BPAN",
"Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)",
"BPAN",
"Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)",
"WD repeat domain phosphoinositide-interacting protein 4",
"WDR45",
"Beta-Propeller Protein-Associated Neurodegeneration"
] | Beta-Propeller Protein-Associated Neurodegeneration | Allison Gregory, Manju A Kurian, Tobias Haack, Susan J Hayflick, Penelope Hogarth | Summary Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent-to-limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizur... | ## Diagnosis
No formal diagnostic criteria for beta-propeller protein-associated neurodegeneration (BPAN) have been published.
BPAN
Onset in early childhood
Development of multiple seizure types
Seizures worse in early childhood, lessening with age
Generalized (absence, tonic, atonic, tonic-clonic and myoclon... | [
"A Abidi, C Mignon-Ravix, P Cacciagli, N Girard, M Milh, L Villard. Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.. Eur J Hum Genet. 2016;24:615-8",
"C Behrends, ME Sowa, SP Gygi, JW Harper. Network organization of the human autophagy system.. Nature... | 16/2/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
bpes | bpes | [
"Blepharophimosis Syndrome",
"BPES",
"BPES",
"Blepharophimosis Syndrome",
"Forkhead box protein L2",
"FOXL2",
"Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome"
] | Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome | Hannah Verdin, Charlotte Matton, Elfride De Baere | Summary The diagnosis of BPES is established in a proband with suggestive findings and a heterozygous pathogenic variant in BPES is almost always inherited in an autosomal dominant manner. More than half of individuals diagnosed with BPES have the disorder as the result of a pathogenic variant inherited from an affecte... | ## Diagnosis
No consensus clinical diagnostic criteria for
BPES
Additionally, primary ovarian insufficiency is present in individuals with BEPS type 1.
The diagnosis of BPES
Note: Identification of a heterozygous variant of
Molecular genetic testing approaches can include a combination of
Gene-targeted testing r... | [
"PS Beckingsale, TJ Sullivan, VA Wong, C Oley. Blepharophimosis: a recommendation for early surgery in patients with severe ptosis.. Clin Experiment Ophthalmol 2003;31:138-42",
"D Beysen, S De Jaegere, D Mowat, R Laframboise, G Gillessen-Kaesbach, M Fellous, RA Veitia, P Boucard, P Touraine, BP Leroy, C De Cock, ... | 8/7/2004 | 10/3/2022 | 15/2/2006 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
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