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GENATLAS PHENOTYPE
last update : 09-01-2019
Symbol CDG1X
Location 3p23
Name congenital disorder of glycosylation, type I X
Corresponding gene STT3B
Main clinical features
  • severe developmental delay and congenital anomalies, including microcephaly, failure to thrive, lack of visual tracking and optic nerve hypoplasia, cerebellar atrophy, seizures, hypotonia, liver involvement, thrombocytopenia, genital anomalies
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    metabolism/carbohydrates
    Type disease
    Remark(s)