Intellectual developmental disorder, X-linked 41

Preferred Label : Intellectual developmental disorder, X-linked 41;

Symbol : XLID41;

CISMeF acronym : MRX41; MRX48;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 48; MRX48; MRX41; Mental retardation, X-linked 41;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the GDP dissociation inhibitor 1 gene (GDI1, 300104.0001);

Prefixed ID : #300849;

Details

Origin ID

300849;

UMLS CUI

C3887939;

Automatic exact mappings (from CISMeF team)
- GDP dissociation inhibitor 1 [ORDO Gene]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- non-syndromic X-linked intellectual disability 41 [DO Concept]
- symbol withdrawn MRX41 [HGNC gene]
DO Cross reference
- non-syndromic X-linked intellectual disability 41 [DO Concept]
Genes related to phenotype
- Gdp dissociation inhibitor 1 [OMIM gene]
HPO term(s)
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, severe [HPO term]
- Specific learning disability [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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