Intellectual developmental disorder, autosomal recessive 63

Preferred Label : Intellectual developmental disorder, autosomal recessive 63;

Symbol : MRT63;

CISMeF acronym : MRT63;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 63;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium/calmodulin-dependent protein kinase II-alpha gene (CAMK2A, 114078.0006);

Prefixed ID : #618095;

Details

Origin ID

618095;

UMLS CUI

C4748167;

Genes related to phenotype
- Calcium/calmodulin-dependent protein kinase II-alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, severe [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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