Intellectual developmental disorder, autosomal recessive 50

Preferred Label : Intellectual developmental disorder, autosomal recessive 50;

Symbol : MRT50;

CISMeF acronym : MRT50;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 50;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the enhancer of mRNA decapping 3 gene (EDC3, 609842.0001);

Prefixed ID : #616460;

Details

Origin ID

616460;

UMLS CUI

C4225319;

Genes related to phenotype
- Enhancer of mrna decapping 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Microcephaly [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
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