Conditions / Genetic
congenital disorder of glycosylation type IIr
info · Genetic
A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp1
A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.
Signs and symptoms
- Decreased liver function
- Recurrent infections
- Cutis laxa
- Hypospadias
- Micrognathia
- Low-set ears
- Hepatic steatosis
- Decreased circulating immunoglobulin concentration
- Ascites
- Hepatomegaly