RFT1-congenital disorder of glycosylation
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).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG syndrome type In
exact
CDG-In
exact
CDG1N
exact
CDGIN
related
Man5GlcNAc2-PP-Dol flippase deficiency
exact
RFT1-CDG
exact
RFT1-CDG (CDG-In)
related
RFT1-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type In
exact
congenital disorder of glycosylation type 1n
exact
congenital disorder of glycosylation type In
exact
congenital disorder of glycosylation, type In
related
SPBC887.19