| Metadata | |
|---|---|
| ID | DOID:0080133 |
| Name | multiple mitochondrial dysfunctions syndrome 1 |
| Definition | A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. https://www.ncbi.nlm.nih.gov/pubmed/29441221, https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/22077971, https://www.ncbi.nlm.nih.gov/pubmed/28470589 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
NFU1 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |