Term Name: multiple mitochondrial dysfunctions syndrome 3
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.
Ontology: Human Disease [DOID:0080135]   ( DOID:0080135 )

Relationships
is a type of: autosomal recessive disease multiple mitochondrial dysfunctions syndrome