Intellectual developmental disorder, autosomal dominant 53

Preferred Label : Intellectual developmental disorder, autosomal dominant 53;

Symbol : MRD53;

CISMeF acronym : MRD53;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 53;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium/calmodulin-dependent protein kinase II-alpha gene (CAMK2A, 114078.0001);

Prefixed ID : #617798;

Details

Origin ID

617798;

UMLS CUI

C4540481;

Currated CISMeF NLP mapping
- autosomal dominant mental retardation 53 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 53 [DO Concept]
Genes related to phenotype
- Calcium/calmodulin-dependent protein kinase II-alpha [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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