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GENATLAS PHENOTYPE

last update : 15-06-2018

Symbol	CDG1AA
Location	6q22.1
Name	congenital disorder of glycosylation, type 1aa
Corresponding gene	NUS1
Main clinical features	severe neurodevelopmental disorder apparent since birth with generalized hypotonia, profound developmental delay, and early-onset refractory seizures with regression other features included failure to thrive, small head, spasticity, and congenital scoliosis, also central visual and hearing impairment and mottling of the retinal pigment epithelium brain imaging showed severe cortical atrophy
Genetic determination
Function/system disorder
Type	disease

Remark(s)