Intellectual developmental disorder, autosomal dominant 59

Preferred Label : Intellectual developmental disorder, autosomal dominant 59;

Symbol : MRD59;

CISMeF acronym : MRD59;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 59;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium/calmodulin-dependent protein kinase II-gamma gene (CAMK2G, 602123.0001);

Prefixed ID : #618522;

Details

Origin ID

618522;

UMLS CUI

C5193190;

Genes related to phenotype
- Calcium/calmodulin-dependent protein kinase II-gamma [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Facial hypotonia [HPO term]
- Flat face [HPO term]
- Flat forehead [HPO term]
- Fragile nails [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Highly arched eyebrow [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mild short stature [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Protruding ear [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
Not associated HPO term(s)
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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