Disease Term Disease ID Gene Symbol Classification References Source
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency C4283745 HIBCH Causal Pathogenic evidence from ClinVar - ClinVar
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 88639 HIBCH Causal Pathogenic evidence from ClinVar - ClinVar