Disease association ontology term - MONDO:0012783 - RFT1-congenital disorder of glycosylation
Term summary
- ID
- MONDO:0012783
- Name
- RFT1-congenital disorder of glycosylation
- Ontology or CV name
- Disease association
- Definition
- RFT1-CDG is a form of congenital disorders of N-linked glycosylation 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. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).
