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 ).

Clinical Features

Phenotypes and symptoms related to Specific Language Impairment 5; Sli5

  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Autism
  • Autistic behavior
  • Abnormality of the cerebral white matter
  • Peripheral demyelination
  • Language impairment

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Specific Language Impairment 5; Sli5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
50 %
TM4SF20.

By Fulgent Genetics Fulgent Genetics (United States).

TM4SF20
Specificity
100 %
Genes
50 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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