Intellectual developmental disorder, autosomal dominant 54

Preferred Label : Intellectual developmental disorder, autosomal dominant 54;

Symbol : MRD54;

CISMeF acronym : MRD54;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 54;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium/calmodulin-dependent protein kinase II-beta gene (CAMK2B, 607707.0001);

Prefixed ID : #617799;

Details

Origin ID

617799;

UMLS CUI

C4540484;

Currated CISMeF NLP mapping
- autosomal dominant mental retardation 54 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 54 [DO Concept]
Genes related to phenotype
- Calcium/calmodulin-dependent protein kinase II-beta [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Constipation [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Visual impairment [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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