Conditions / Genetic
congenital disorder of glycosylation Id
info · Genetic
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
Signs and symptoms
- Seizure
- Type I transferrin isoform profile
- Microcephaly
- Spastic tetraparesis
- Global developmental delay
- Optic atrophy
- Hypertonia
- Epicanthus
- Small nail
- Hypsarrhythmia
Also known as: congenital disorder of glycosylation 1d