Term Name: combined oxidative phosphorylation deficiency 19
Synonyms: COXPD19, severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1.
Ontology: Human Disease [DOID:0111476]   ( DOID:0111476 )

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