TM4SF20 gene related symptoms and diseases
All the information presented here about the TM4SF20 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TM4SF20 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Abnormal facial shape | Very Common - Between 80% and 100% cases |
| Delayed speech and language development | Very Common - Between 80% and 100% cases |
| Autism | Very Common - Between 80% and 100% cases |
| Autistic behavior | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TM4SF20 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the cerebral white matter
- Peripheral demyelination
- Language impairment
Rare diseases associated to TM4SF20 gene
Here you will find a list of rare diseases related to the TM4SF20. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5
Description
Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).
Most common symptoms of SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5
- Global developmental delay
- Abnormal facial shape
- Delayed speech and language development
- Autism
- Autistic behavior
More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5
SOURCES: OMIM
Search interest in TM4SF20
Potential gene panels for TM4SF20 gene
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
TM4SF20 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TM4SF20 gene.
More info about this panel United States.
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