OnlineIMD
Methylmalonic aciduria and homocystinuria, cblJ type
(CblJ disease)
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
ABCD4
/ ABCD4 (ATP Binding Cassette Subfamily D Member 4)
14q24.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ATP-binding cassette sub-family D member 4
Disease group(s)
21.9.2 Disorders of intracellular cobalamin metabolism