Megalencephalic leukoencephalopathy with subcortical cysts, with or without mental retardation
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION | C3151356 | HEPACAM | Causal Pathogenic evidence from ClinVar | 21419380, 24357685, 25655951 | ClinVar |