KEGG   VARIANT: 79947v1
Entry
79947v1                      Variant                               
Name
DHDDS deficiency
Type
Loss of function
Gene
DHDDS  dehydrodolichyl diphosphate synthase subunit [KO:K11778]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608172
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:27343064
  Authors
Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, Dorison N, Mignot C, Seta N, Chantret I, Dupre T, Moore SE
  Title
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
  Journal
Orphanet J Rare Dis 11:84 (2016)
DOI:10.1186/s13023-016-0468-1
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