Encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 500144 | TRAPPC12 | Causal Pathogenic evidence from ClinVar | - | ClinVar |