Deficiency of hydroxymethylglutaryl-coa lyase
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hydroxymethylglutaric aciduria | C1533587 | HMGCL | Causal Pathogenic evidence from ClinVar | 3128690, 8440722, 8617516, 9817922, 19177531, 20532825, 23861731, 28583327 | ClinVar |