Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | C4540327 | BPTF | Causal Pathogenic evidence from ClinVar | 28942966 | ClinVar |