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GENATLAS PHENOTYPE
last update : 10-11-2010
Symbol CDG1Q
Location 4q12
Name congenital disorder of glycosylation, type 1Q
Corresponding gene SRD5A3
Main clinical features
  • mental retardation and ophthalmologic and cerebellar defects
  • muscular hypotonia, nystagmus,hypoplasia or coloboma/iris/retina/chorioid/optic disc, optic atrophy, cerebellar atrophy, spasticity, mental retardation
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Remark(s)