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;

Détails

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]

Position du mot-clé dans l'(les) arborescence(s) :

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