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methylmalonic acidemia with homocystinuria, type cblX | RareConnect | RareConnect.io

/methylmalonic aciduria and homocystinuria

/non-syndromic X-linked intellectual disability

/methylmalonic acidemia with homocystinuria, type cblX

methylmalonic acidemia with homocystinuria, type cblX

Rare Disease

MONDO:0010657

Also Known As

combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblXmethylmalonic aciduria and homocysteinemia, cblx type, X-linked recessivemethylmalonic aciduria with homocystinuria, type cblXintellectual disability, X-linked 3mental retardation, X-linked 3methylmalonic acidemia and HOMOCYSTEINEMIA, cblX typemethylmalonic acidemia and homocysteinemia type cblX

Patient-Friendly Information

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:309541 ↗

Orphanet

Orphanet:369962 ↗

GARD

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