Intellectual developmental disorder, autosomal dominant 45

Preferred Label : Intellectual developmental disorder, autosomal dominant 45;

Symbol : MRD45;

CISMeF acronym : MRD45;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 45;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the capicua transcriptional repressor gene (CIC, 612082.0001);

Prefixed ID : #617600;

Details

Origin ID

617600;

UMLS CUI

C4539848;

Currated CISMeF NLP mapping
- autosomal dominant mental retardation 45 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 45 [DO Concept]
Genes related to phenotype
- Capicua transcriptional repressor [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Developmental regression [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Variable expressivity [HPO term]
See also inter- (CISMeF)
- CIC wt Allele [NCIt concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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