MLYCD

malonyl-CoA decarboxylase
OMIM: 606761
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MALONYL-COA DECARBOXYLASE DEFICIENCY 167676
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MALONYL-COA DECARBOXYLASE DEFICIENCY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Malonyl-CoA decarboxylase deficiency, 248360, MALONYL-COA DECARBOXYLASE DEFICIENCY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Malonyl-CoA decarboxylase deficiency, malonic aciduria, Malonyl-CoA decarboxylase deficiency (Organic acidurias), 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism), malonic aciduria, Hypertrophic-hypocontractile cardiomyopathy, Malonyl-CoA decarboxylase deficiency, Mild clinical features. Developmental delay, epilepsy, Malonic aciduria, Malonyl-CoA decarboxylase deficiency (Organic acidurias), HCM