WormBase Tree Display for DO_term: DOID:0070039
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| DOID:0070039 | Name | NESCAV syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. | ||||
| Synonym | Exact | MRD9 | |||
| NESCAVS | |||||
| autosomal dominant intellectual disability 9 | |||||
| autosomal dominant mental retardation 9 | |||||
| autosomal dominant non-syndromic intellectual disability 9 | |||||
| neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment | |||||
| Parent | Is_a | DOID:0060307 | |||
| DB_info | Database | OMIM | disease | 614255 | |
| Attribute_of | Gene_by_orthology | WBGene00006831 |
