Conditions / Genetic
congenital disorder of glycosylation Iw
info · Genetic
A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
Signs and symptoms
- Microcephaly
- Feeding difficulties
- Failure to thrive
- Cerebellar atrophy
- Seizure
- Global developmental delay
- Hypotonia
- Abnormal glycosylation
- Intellectual disability
Also known as: congenital disorder of glycosylation 1w