multiple mitochondrial dysfunctions syndrome 3

Term ID

DOID:0080135

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. (3)

References

• MIM:615330
• ORDO:363424

Ontology

Human Disease   ( DOID:0080135 )