RFC2 gene related symptoms and diseases

All the information presented here about the RFC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RFC2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Tracheoesophageal fistula Very Common - Between 80% and 100% cases
Premature graying of hair Very Common - Between 80% and 100% cases
Hallux valgus Very Common - Between 80% and 100% cases
Open bite Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RFC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Loss of consciousness
  • Polyuria
  • Glucose intolerance
  • Hypoplastic toenails
  • Celiac disease
  • Abnormality of dental morphology
  • Unilateral renal agenesis
  • Obsessive-compulsive behavior

And 300 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to RFC2 gene

Here you will find a list of rare diseases related to the RFC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

WILLIAMS SYNDROME Is also known as deletion 7q11.23, williams syndrome, williams-beuren syndrome, chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, wms, monosomy 7q11.23, ws


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

Most common symptoms of WILLIAMS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia



Potential gene panels for RFC2 gene

RFC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RFC2 gene.

More info about this panel

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