congenital disorder of glycosylation Ij

A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which e

A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.

Signs and symptoms

• Hypsarrhythmia
• Hypotonia
• Infantile spasms
• Single transverse palmar crease
• Exotropia
• Type I transferrin isoform profile
• Microcephaly
• Global developmental delay
• Clinodactyly of the 5th finger
• Hypertonia

Also known as: Congenital disorder of glycosylation 1j