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GENATLAS PHENOTYPE

last update : 18-09-2009

Symbol	CDG1F
Location	17p13.1
Name	congenital disorder of glycosylation, type 1F
Other name(s)	congenital disorder of glycosylation, type If
Corresponding gene	MPDU1
Other symbol(s)	MPDU1-CDG
Main clinical features	metabolic deficiencies in glycoprotein biosynthesis, with intractable seizures from birth, hypertonia, severe feeding difficulties, no psychomotor development, patchy desquamation, dry skin and scaling with erythroderma, ichthyosis-like skin disorder, psychomotor and growth retardation, and impaired vision in fibroblasts, accumulated incomplete lipid-linked oligosaccharide precursors for N-linked protein glycosylation
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

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