3-methylglutaconic aciduria with sensorineural deafness, encephalopathy and leigh-like syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | C4040739 | SERAC1 | Causal Pathogenic evidence from ClinVar | 16527507, 27186703, 27604308 | ClinVar |