- OMIM ID
-
277380
- OMIM term:
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
- Alternative terms:
-
METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE
METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT
VITAMIN B12 LYSOSOMAL RELEASE DEFECT
COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF
VITAMIN B12 STORAGE DISEASE
COBALAMIN F DISEASE; cblF
- (∗) Location:
- 6q13
- (†) Associated OMIM genes:
- LMBRD1
- (‡) Associated MGI genes:
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