Conditions / Genetic
congenital disorder of glycosylation If
info · Genetic
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
Signs and symptoms
- Seizure
- Severe global developmental delay
- Hypotonia
- Strabismus
- Flexion contracture
- Ataxia
- Dry skin
- Failure to thrive
- Nystagmus
- Cerebral atrophy
Also known as: congenital disorder of glycosylation 1f