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Metadata
ID	DOID:0080558
Name	congenital disorder of glycosylation If
Definition	A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11733556
Xrefs	GARD:9832 MIM:609180 ORDO:79323
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1f [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I