Term Name: | combined oxidative phosphorylation deficiency 37 |
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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 ) |