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| DOID:0050943 | Name | spastic ataxia 4 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. | ||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0050952 | |||||
| DB_info | Database | OMIM | disease | 613672 | |
| Attribute_of | Gene_by_orthology | WBGene00014124 |
