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GENATLAS PHENOTYPE

last update : 24-02-2016

Symbol	CDG2K
Location	4q12
Name	congenital disorder of glycosylation type IIk
Corresponding gene	TMEM165
Main clinical features	psychomotor retardation and growth retardation, with short stature dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia,including osteoporosis and epiphyseal, metaphyseal, and diaphyseal dysplasia serum transferrin analysis shows a CDG type II pattern
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

Remark(s)