| Metadata | |
|---|---|
| ID | DOID:0080135 |
| Name | multiple mitochondrial dysfunctions syndrome 3 |
| Definition | A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. https://www.ncbi.nlm.nih.gov/pubmed/27785568, https://www.ncbi.nlm.nih.gov/pubmed/28671726, https://www.ncbi.nlm.nih.gov/pubmed/28913435, https://www.omim.org/entry/615330 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IBA57 deficiency [EXACT] |
| Parent Relationships |