|OBO ID: DOID:0080566|
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|Term Name:||congenital disorder of glycosylation In||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0080566)|
|is a type of:||