Intellectual developmental disorder, autosomal dominant 56

Preferred Label : Intellectual developmental disorder, autosomal dominant 56;

Symbol : MRD56;

CISMeF acronym : MRD56;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 56;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the clathrin heavy polypeptide gene (CLTC, 118955.0001);

Prefixed ID : #617854;

Details

Origin ID

617854;

UMLS CUI

C4693389;

Currated CISMeF NLP mapping
- autosomal dominant mental retardation 56 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 56 [DO Concept]
Genes related to phenotype
- Clathrin, heavy polypeptide [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Impulsivity [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Open mouth [HPO term]
- Paraparesis [HPO term]
- Protruding ear [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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