Intellectual developmental disorder, autosomal dominant 6, with or without seizures

Preferred Label : Intellectual developmental disorder, autosomal dominant 6, with or without seizures;

Symbol : MRD6;

CISMeF acronym : MRD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 6, with or without seizures;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ionotropic glutamate receptor, N-methyl-D-aspartate, subunit 2B gene (GRIN2B, 138252.0001);

Prefixed ID : #613970;

Details

Origin ID

613970;

UMLS CUI

C3151411;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 6 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 6 [DO Concept]
Genes related to phenotype
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 2b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Chorea [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
See also inter- (CISMeF)
- GRIN2B wt Allele [NCIt concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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