| Metadata | |
|---|---|
| ID | DOID:0070039 |
| Name | NESCAV syndrome |
| Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. https://www.ncbi.nlm.nih.gov/pubmed/21376300 |
| Xrefs | |
| Subsets |
NCIthesaurus |
| Synonyms |
autosomal dominant intellectual disability 9 [EXACT] autosomal dominant mental retardation 9 [EXACT] autosomal dominant non-syndromic intellectual disability 9 [EXACT] MRD9 [EXACT] NESCAVS [EXACT] neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment [EXACT] |
| Parent Relationships |