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Metadata
ID	DOID:0080557
Name	congenital disorder of glycosylation Ie
Definition	A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/23856421
Xrefs	GARD:9831 MIM:608799 ORDO:79322
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1e [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I