Intellectual developmental disorder, autosomal recessive 37

Preferred Label : Intellectual developmental disorder, autosomal recessive 37;

Symbol : MRT37;

CISMeF acronym : MRT37;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 37;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ankyrin 3 gene (ANK3, 600465.0001);

Prefixed ID : #615493;

Details

Origin ID

615493;

UMLS CUI

C3809672;

Automatic exact mappings (from CISMeF team)
- ANK3-related intellectual disability-sleep disturbance syndrome [ORDO Disease]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Ankyrin 3 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruxism [HPO term]
- Generalized hypotonia [HPO term]
- Hyperactivity [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, moderate [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- ANK3-related intellectual disability-sleep disturbance syndrome [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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