Term Name: combined oxidative phosphorylation deficiency 28
Synonyms: COXPD28, neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.
Ontology: Human Disease [DOID:0111470]   ( DOID:0111470 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency