| Disease ID | Source | Name | Description |
| 617675 | OMIM | Myopathy, mitochondrial, and ataxia (MMYAT) | A neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others. The disease is caused by variants affecting the gene represented in this entry. |