| Metadata | |
|---|---|
| ID | DOID:0111499 |
| Name | combined oxidative phosphorylation deficiency 37 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/27485409 |
| Xrefs | |
| Synonyms |
COXPD37 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |