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Metadata
ID	DOID:0080555
Name	congenital disorder of glycosylation Ic
Definition	A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation, https://www.ncbi.nlm.nih.gov/pubmed/16007612
Xrefs	GARD:9829 MIM:603147 ORDO:79320
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1c [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I