congenital disorder of glycosylation Ik

A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the g

A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.

Signs and symptoms

• Hepatomegaly
• Nonimmune hydrops fetalis
• Multifocal epileptiform discharges
• Hypertelorism
• Large fontanelles
• Hypogonadism
• Splenomegaly
• Type I transferrin isoform profile
• Areflexia
• Joint contracture

Also known as: congenital disorder of glycosylation 1k