Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 09-01-2019
Symbol CDG1Y
Location Xq28
Name congenital disorder of glycosylation, type I Y
Corresponding gene SSR4
Main clinical features
  • at birth, microcephaly and respiratory distress; later in infancy, delayed development and hypotonia, and mild seizure disorder
  • dysmorphic features included micrognathia, excess skin around the neck, increased fat pads
  • biochemical studies showed a mildly abnormal carbohydrate-deficient transferrin profile suggestive of a type I CDG
  • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    metabolism/carbohydrates
    Type disease
    Remark(s)