DHDDS

dehydrodolichyl diphosphate synthase subunit
OMIM: 608172
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 2.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay and seizures with or without movement abnormalities, OMIM:617836
R-numbers: R59
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental delay and seizures with or without movement abnormalities, OMIM:617836
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 59, OMIM:613861