Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | C4748127 | IRF2BPL | Causal Pathogenic evidence from ClinVar | 25363768, 30057031, 30166628 | ClinVar |