Human Disease
autosomal dominant intellectual developmental disorder
- Term ID
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DOID:0060307
- Synonyms
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- autosomal dominant mental retardation
- autosomal dominant non-syndromic mental retardation
- Definition
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A intellectual disability characterized by an autosomal dominant inheritance pattern.
https://www.ncbi.nlm.nih.gov/pubmed/21124998
- References
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- Ontology
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Human Disease
(
DOID:0060307
)
Relationships
- is a type of
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- has subtype
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Arboleda-Tham syndrome
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Coffin-Siris syndrome
developmental delay, dysmorphic facies, and brain anomalies
developmental delay, hypotonia, and impaired language
GAND syndrome
Helsmoortel-Van Der Aa Syndrome
intellectual developmental disorder with autistic features and language delay, with or without seizures
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Luo-Schoch-Yamamoto syndrome
NESCAV syndrome
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
neurodevelopmental disorder with eye movement abnormalities and ataxia
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
neurodevelopmental disorder with speech impairment and dysmorphic facies
Pierpont syndrome
Schuurs-Hoeijmakers Syndrome
Sifrim-Hitz-Weiss syndrome
Vulto-van Silfout-de Vries syndrome
White-Sutton syndrome
Xia-Gibbs Syndrome
Show first 5 Terms