| Metadata | |
|---|---|
| ID | DOID:0080274 |
| Name | multiple mitochondrial dysfunctions syndrome 5 |
| Definition | A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/28356563, https://www.ncbi.nlm.nih.gov/pubmed/29623423, https://www.ncbi.nlm.nih.gov/pubmed/31016283 |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |