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Metadata
ID	DOID:0080566
Name	congenital disorder of glycosylation In
Definition	A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23111317
Xrefs	GARD:12394 MIM:612015 ORDO:244310
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1n [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I