Metadata | |
---|---|
ID | DOID:0112119 |
Name | combined oxidative phosphorylation deficiency 41 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. https://pubmed.ncbi.nlm.nih.gov/30283131/ |
Xrefs | |
Synonyms |
COXPD41 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |