ISCA1 deficiency

Synonym(s)
- Multiple mitochondrial dysfunctions syndrome type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ISCA1 / Iron-Sulfur Cluster Assembly 1
  9q21.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Iron-sulfur cluster carrier protein ISCA1, mitochondrial
Disease group(s)
- 8.2 Disorders of lipoic acid and iron-sulfur metabolism