Conditions / Genetic
congenital disorder of glycosylation Ie
info · Genetic
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
Signs and symptoms
- Elevated circulating hepatic transaminase concentration
- Elevated circulating creatine kinase activity
- Strabismus
- Seizure
- Hypotonia
- Ataxia
- Generalized hypotonia
- Nystagmus
- Smooth philtrum
- Hypertelorism
Also known as: congenital disorder of glycosylation 1e