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All Diseases > ATP6AP2-Congenital Disorder of Glycosylation
ATP6AP2-Congenital Disorder of Glycosylation (ATP6AP2-CDG)
Alternative Names: Congenital Disorder Of Glycosylation Type Iir
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, X-linked disorder caused by a mutation in the gene ATP6AP1 disrupting protein glycosylation. Symptoms typically manifest in infancy, including liver dysfunction, immunodeficiency (impaired immune system), neurological abnormalities, ataxia (impaired balance or coordination), loose skin, and facial dysmorphism (abnormal difference in structure).