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Metadata
ID	DOID:0080563
Name	congenital disorder of glycosylation Ik
Definition	A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation, https://www.ncbi.nlm.nih.gov/pubmed/28108845
Xrefs	GARD:9838 MIM:608540 ORDO:79327
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1k [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I