combined oxidative phosphorylation deficiency 21

Term ID

DOID:0111465

Synonyms

• COXPD21

Definition

A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. (2)

References

• MIM:615918
• ORDO:420733

Ontology

Human Disease   ( DOID:0111465 )