OnlineIMD
HSP60 deficiency
Synonym(s)
Hypomyelinating leukodystrophy type 4 (recessive)
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
HSPD1
/ Heat Shock Protein Family D Member 1
2q33.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Heat shock protein 60
Disease group(s)
11.3 Disorders of mitochondrial protein quality control
Child entries
Autosomal dominant spastic paraplegia type 13