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Metadata
ID	DOID:0080564
Name	congenital disorder of glycosylation Il
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. https://www.ncbi.nlm.nih.gov/pubmed/26453364
Xrefs	GARD:9839 MIM:608776 ORDO:79328
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1l [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I