Term Name: | congenital disorder of glycosylation Il |
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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 ) |