autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures (DOID:0070739)
Alliance: disease page
Synonyms: NDHMSR
Alt IDs: OMIM:617820, UMLS_CUI:C4693325
Definition: An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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