| Disease ID | Source | Name | Description |
| 616896 | OMIM | Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14) | An autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria. The disease is caused by variants affecting the gene represented in this entry. |
| 165500 | OMIM | Optic atrophy 1 (OPA1) | A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. The disease is caused by variants affecting the gene represented in this entry. |
| 125250 | OMIM | Dominant optic atrophy plus syndrome (DOA+) | A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. The disease is caused by variants affecting the gene represented in this entry. |
| 210000 | OMIM | Behr syndrome (BEHRS) | An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. The disease is caused by variants affecting the gene represented in this entry. |