OnlineIMD
Ronin deficiency
Synonym(s)
THAP11-related methylmalonic aciduria and homocystinuria
,
THAP11-related CblC disease
Type
Disease
External link(s)
IEMbase
Gene
THAP11
/ THAP domain containing 11
16q22.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
THAP domain-containing protein 11
Parent entry
Methylmalonic aciduria and homocystinuria, cblC type