congenital disorder of glycosylation Il (DOID:0080564)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1l
Alt IDs: OMIM:608776, ORDO:79328
Definition: 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.