Human genes for congenital disorder of glycosylation type IIm
Congenital disorder of glycosylation type IIm [DOID:0070265]
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.
Synonyms: congenital disorder of glycosylation type IIm, congenital disorder of glycosylation type IIms, DOID:0070265, congenital disorder of glycosylation type 2m, Congenital disorder of glycosylation type 2m ...