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

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

Symbol : NDHMSR;

CISMeF acronym : NDHMSR;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 1 gene (GRIN1, 138249.0007);

Prefixed ID : #617820;

Details

Origin ID

617820;

UMLS CUI

C4693325;

Genes related to phenotype
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Dystonia [HPO term]
- Epileptic encephalopathy [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, severe [HPO term]
- Involuntary movements [HPO term]
- Midface retrusion [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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