| Disease ID | Source | Name | Description |
| 619059 | OMIM | Mitochondrial complex IV deficiency, nuclear type 15 (MC4DN15) | An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN15 is characterized by global developmental delay, poor feeding, metabolic acidosis, short stature, microcephaly, proximal muscle weakness, and distal spasticity. Additional manifestations include scoliosis, primary pulmonary hypertension, refractory seizures, and inability to walk. Serum and CSF lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. The disease may be caused by variants affecting the gene represented in this entry. |