DHCR24

24-dehydrocholesterol reductase
OMIM: 606418
PanelMode of inheritanceDetails
7 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dermosterolsis, 602398
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DESMOSTEROLOSIS 238860
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DESMOSTEROLOSIS
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis
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
Desmosterolosis 602398
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
Desmosterolosis, 602398, DESMOSTEROLOSIS
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis 602398