Conditions / Genetic
congenital disorder of glycosylation Ii
info · Genetic
A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
Signs and symptoms
- Hypsarrhythmia
- Delayed CNS myelination
- Hepatomegaly
- Severe intellectual disability
- Infantile spasms
- Reduced factor XI activity
- Nystagmus
- Iris coloboma
- Prolonged partial thromboplastin time
- Type I transferrin isoform profile
Also known as: congenital disorder of glycosylation 1i