| Metadata | |
|---|---|
| ID | DOID:0070739 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070739 Copy |
| Name | autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| 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. https://pubmed.ncbi.nlm.nih.gov/28051072/, https://pubmed.ncbi.nlm.nih.gov/27164704/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C4693325 exactMatch MIM:617820 |
| Subsets |
DO_rare_slim |
| Synonyms |
NDHMSR [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |