| Metadata | |
|---|---|
| ID | DOID:0070038 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070038 Copy |
| Name | autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| Definition | An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. https://pubmed.ncbi.nlm.nih.gov/27164704/, https://www.ncbi.nlm.nih.gov/pubmed/21376300 |
| Xrefs | |
| SKOS |
exactMatch MIM:614254 exactMatch NCI:C206518 exactMatch UMLS_CUI:C3280282 |
| Synonyms |
autosomal dominant intellectual developmental disorder 8 [EXACT] autosomal dominant mental retardation 8 [EXACT] autosomal dominant non-syndromic intellectual disability 8 [EXACT] MRD8 [EXACT] NDHMSD [EXACT] |
| Parent Relationships |