Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy

Preferred Label : Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy;

Symbol : MRT18;

CISMeF acronym : MRT18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder, autosomal recessive 18; Mental retardation, autosomal recessive 18;

Inheritance : Autosomal recessive;

Prefixed ID : #614249;

Details

Origin ID

614249;

UMLS CUI

C3280265;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- MED23 wt Allele [NCIt concept]
- symbol withdrawn MRT18 [HGNC gene]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Mediator complex subunit 23 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Congenital onset [HPO term]
- Dystonia [HPO term]
- Expressive language delay [HPO term]
- Feeding difficulties [HPO term]
- Hypoplasia of the pons [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, profound [HPO term]
- Irritability [HPO term]
- Microcephaly [HPO term]
- Sleep disturbance [HPO term]
- Spasticity [HPO term]
- Thin corpus callosum [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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