Congenital contractures of the limbs and face, hypotonia, and developmental delay
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY | C4225398 | NALCN | Causal Pathogenic evidence from ClinVar | 24075186, 25683120, 26938784 | ClinVar |