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RFT1-CDG

Disease 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).

ORPHA:244310

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type In
    • CDG-In
    • CDG1N
    • Carbohydrate deficient glycoprotein syndrome type In
    • Congenital disorder of glycosylation type 1n
    • Congenital disorder of glycosylation type In
    • Man5GlcNAc2-PP-Dol flippase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E77.8
  • OMIM: 612015
  • UMLS: C2677590
  • MeSH: -
  • GARD: 12394
  • MedDRA: -

Detailed information

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