| Disease ID | Source | Name | Description |
| 618811 | OMIM | Mitochondrial DNA depletion syndrome 18 (MTDPS18) | An autosomal recessive mitochondrial disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion. The disease may be caused by variants affecting the gene represented in this entry. |