OBO ID: DOID:0080135
Term Name: multiple mitochondrial dysfunctions syndrome 3 Search Ontology:
Synonyms:
  • IBA57 deficiency
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. (4)
References:
Ontology: Human Disease   (DOID:0080135)
OTHER multiple mitochondrial dysfunctions syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IBA57 Multiple mitochondrial dysfunctions syndrome 3 615330
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None