| Disease ID | Source | Name | Description |
| 608709 | OMIM | Partial acquired lipodystrophy (APLD) | A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology. The disease is caused by variants affecting the gene represented in this entry. |
| 616540 | OMIM | Epilepsy, progressive myoclonic 9 (EPM9) | A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development. The disease may be caused by variants affecting the gene represented in this entry. |