MMADHC

methylmalonic aciduria and homocystinuria, cblD type
OMIM: 611935
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria, cblD type, 277410
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, cblD type, variant 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD (MMADHC)