congenital disorder of glycosylation Ip

A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric ble

A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.

Signs and symptoms

• Type I transferrin isoform profile
• Vomiting
• Seizure
• Global developmental delay
• Hypotonia
• Sensorineural hearing impairment
• EEG with generalized epileptiform discharges
• Opisthotonus
• Microcephaly
• Absent speech

Also known as: congenital disorder of glycosylation 1p