Conditions / Genetic
congenital disorder of glycosylation type IIm
info · Genetic
A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or he
A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
Signs and symptoms
- Coarse facial features
- Thick eyebrow
- Wide nasal bridge
- Absent speech
- Open mouth
- Epileptic spasm
- Epileptic encephalopathy
- Mandibular prognathia
- Seizure
- Global developmental delay
Also known as: CDG IIm; CDGIIm; DEE22; EIEE22; SLC35A2-CDG