congenital disorder of glycosylation Ic

A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in t

A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.

Signs and symptoms

• Type I transferrin isoform profile
• Seizure
• Global developmental delay
• Hypotonia
• Areflexia
• Axial hypotonia
• Strabismus
• Ataxia
• Elevated serum transaminases during infections
• Reduced factor XI activity

Also known as: congenital disorder of glycosylation 1c