Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1171 | ATP1A3 | Causal Pathogenic evidence from ClinVar | - | ClinVar |