IBA57 deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- IBA57 / Iron-Sulfur Cluster Assembly Enzyme
  1q42.13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial iron-sulfur cluster assembly enzyme
Disease group(s)
- 8.2 Disorders of lipoic acid and iron-sulfur metabolism
Child entries
- IBA57-related autosomal recessive spastic paraplegia