Human genes for congenital disorder of glycosylation Il
Congenital disorder of glycosylation Il [DOID:0080564]
A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.
Synonyms: congenital disorder of glycosylation Il, DOID:0080564, congenital disorder of glycosylation Ils, congenital disorder of glycosylation 1l