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MMADHC

metabolism of cobalamin associated D

HCNC Approved Symbol
MMADHC (HGNC:25221)
Genomic Coordinates
2:149,569,637 - 149,587,775 (2q23.2)
Synonyms
CL25022, cblD, C2orf25
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Homocystinuria, cblD type, variant 1
277410AR
Methylmalonic aciduria and homocystinuria, cblD type
277410AR
Methylmalonic aciduria, cblD type, variant 2
277410AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the MMADHC gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results