Conditions / Genetic
congenital disorder of glycosylation Ir
info · Genetic
A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
Signs and symptoms
- Type I transferrin isoform profile
- Strabismus
- Decreased liver function
- Delayed ability to walk
- Hypotonia
- Global developmental delay
- Gastroesophageal reflux
- Failure to thrive
- Osteopenia
- Chronic constipation
Also known as: congenital disorder of glycosylation 1r