| Disease ID | Source | Name | Description |
| 615889 | OMIM | Leukoencephalopathy, progressive, with ovarian failure (LKENP) | An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure. The disease is caused by variants affecting the gene represented in this entry. |
| 614096 | OMIM | Combined oxidative phosphorylation deficiency 8 (COXPD8) | A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. The disease is caused by variants affecting the gene represented in this entry. |