TELO2 gene related symptoms and diseases
All the information presented here about the TELO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TELO2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Absent speech | Very Common - Between 80% and 100% cases |
| Rotary nystagmus | Very Common - Between 80% and 100% cases |
| Cerebral visual impairment | Very Common - Between 80% and 100% cases |
| Blue sclerae | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TELO2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Chorea
- Abnormality of movement
- Toe syndactyly
- Pectus carinatum
- Joint laxity
- Kyphoscoliosis
- Clinodactyly
- Pectus excavatum
And 14 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TELO2 gene
Here you will find a list of rare diseases related to the TELO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER
Alternate names
TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome
Most common symptoms of TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER
Search interest in TELO2
Potential gene panels for TELO2 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
TELO2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TELO2 gene.
More info about this panel United States.
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