Intellectual developmental disorder, autosomal recessive 59

Preferred Label : Intellectual developmental disorder, autosomal recessive 59;

Symbol : MRT59;

CISMeF acronym : MRT59;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myo-inositol monophosphatase-1 gene (IMPA1, 602064.0001);

Prefixed ID : #617323;

Details

Origin ID

617323;

UMLS CUI

C4310619;

Genes related to phenotype
- Myoinositol monophosphatase 1 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Paranoia [HPO term]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients