congenital disorder of glycosylation Iaa

info · Genetic

A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.

Signs and symptoms

Bilateral tonic-clonic seizure
Axial hypotonia
Microcephaly
Hearing impairment
Scoliosis
Status epilepticus
Cerebral cortical atrophy
Global developmental delay
Generalized hypotonia
Appendicular spasticity

Also known as: congenital disorder of glycosylation 1aa