| Disease ID | Source | Name | Description |
| 613672 | OMIM | Spastic ataxia 4, autosomal recessive (SPAX4) | A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. The disease is caused by variants affecting the gene represented in this entry. MTPAP mutations result in a defect of mitochondrial mRNA maturation. Affected individuals exhibit a drastic decrease in poly(A) tail length of mitochondrial mRNA transcripts, including COX1 and RNA14 (PubMed:20970105). |