GTF2IRD1 gene related symptoms and diseases
All the information presented here about the GTF2IRD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GTF2IRD1 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 GTF2IRD1 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.
Rare diseases associated to GTF2IRD1 gene
Here you will find a list of rare diseases related to the GTF2IRD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WILLIAMS SYNDROME
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
Description
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
More info about WILLIAMS SYNDROME
Search interest in GTF2IRD1
Potential gene panels for GTF2IRD1 gene
GTF2IRD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GTF2IRD1 gene.
More info about this panel United States.
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