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FLASH GENE
Symbol DHDDS contributors: mct - updated : 28-12-2017
HGNC name dehydrodolichyl diphosphate synthase
HGNC id 20603
ASSOCIATED DISORDERS
corresponding disease(s) RPD , CDG1BB
Susceptibility to Developmental and epileptic encephalopathy (DEE)
Variant & Polymorphism other de novo missense mutation c.632G>A (p.Arg211Gln) associated with DEE
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurosensorial  
target of specific therapeutic options for RP
ANIMAL & CELL MODELS