Term Name: | combined oxidative phosphorylation deficiency 56 |
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Synonyms: | COXPD56 |
Definition: | A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. |
Ontology: | Human Disease [DOID:0070429] ( DOID:0070429 ) |