Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Preferred Label : Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;

Symbol : NDHMSD;

CISMeF acronym : MRD8; NDHMSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 8; MRD8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 1 gene (GRIN1, 138249.0001);

Prefixed ID : #614254;

Détails

Origin ID

614254;

UMLS CUI

C3280282;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
- autosomal dominant non-syndromic intellectual disability 8 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 8 [DO Concept]
Genes related to phenotype
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Chorea [HPO term]
- Constipation [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Feeding difficulties [HPO term]
- Hyperkinetic movements [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Oculogyric crisis [HPO term]
- Polymicrogyria [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Severe muscular hypotonia [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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