DLD

dihydrolipoamide dehydrogenase
OMIM: 238331
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydrolipoamide dehydrogenase deficiency, 246900
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600, LEIGH SYNDROME 256000
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
Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism), Leigh syndrome, Dihydrolipoamide dehydrogenase deficiency, 246900
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
Dihydrolipoamide dehydrogenase deficiency, 246900, DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydrolipoamide dehydrogenase deficiency, 246900, Leigh syndrome
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900