HLCS

holocarboxylase synthetase
OMIM: 609018
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
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018
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
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency, 253270, lactic acidosis with seizures and eczema, immune deficiency, Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
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
Holocarboxylase synthetase deficiency, 253270, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Holocarboxylase synthetase deficiency, 253270
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Holocarboxylase synthetase deficiency, 253270