DHDDS

dehydrodolichyl diphosphate synthase subunit
OMIM: 608172
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental delay and seizures with or without movement abnormalities, 617836, developmental and epileptic encephalopathy (DEE), ?Congenital disorder of glycosylation, type 1bb,613861
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental delay and seizures with or without movement abnormalities, 617836, ?Congenital disorder of glycosylation, type 1bb, 613861
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Retinitis pigmentosa, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa 59, 613861