congenital disorder of glycosylation Ia

A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_b

A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.

Signs and symptoms

• Muscle weakness
• Type I transferrin isoform profile
• Almond-shaped palpebral fissure
• Hepatic fibrosis
• Reduced tissue phosphomannomutase activity
• Ataxia
• Global developmental delay
• Cerebellar hypoplasia
• Hypotonia
• Renal cyst

Also known as: PMM2-congenital disorder of glycosylation; congenital disorder of glycosylation 1a