Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME | C3807567 | CAV1 | Causal Pathogenic evidence from ClinVar | 18211975, 23049990 | ClinVar |