RFT1-congenital disorder of glycosylation
Findings
No curated finding names RFT1-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0012783), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adducted thumbHPOHP:0001181
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Obligate (100% of cases)
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RFT1HGNC:30220
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: RFT1-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type InCDG syndrome type InCDG-InCDG1Ncongenital disorder of glycosylation type 1ncongenital disorder of glycosylation type InMan5GlcNAc2-PP-Dol flippase deficiencyRFT1-CDG