Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Genes: gatb.L (Xla)

combined oxidative phosphorylation deficiency 41

Disease
Source: DOID:0112119
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.
Genes: gatb.L (Xla)