Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES | C4479520 | OTUD6B | Causal Pathogenic evidence from ClinVar | 28343629 | ClinVar |