| Term Name: | congenital disorder of glycosylation Il |
|---|---|
| Synonyms: | congenital disorder of glycosylation 1l |
| 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. |
| Ontology: | Human Disease [DOID:0080564] ( DOID:0080564 ) |