Term Name: combined oxidative phosphorylation deficiency 37
Synonyms: COXPD37
Definition: A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.
Ontology: Human Disease [DOID:0111499]   ( DOID:0111499 )

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