HSPA9 deficiency

Synonym(s)
- Sideroblastic anemia type 4,
- epiphyseal, vertebral, ear, nose, plus associated malformations (EVEN-plus) syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HSPA9 / Heat Shock Protein Family A (Hsp70) Member 9
  5q31.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Heat shock protein 75 kDa, mitochondrial
Disease group(s)
- 11.3 Disorders of mitochondrial protein quality control