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GTR Home > Conditions/Phenotypes > Specific language impairment 5

Summary

Specific language impairment-5 (SLI5) 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 (602081). [from OMIM]

Available tests

3 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: PRO994, SLI5, TCCE518, TM4SF20
    Summary: transmembrane 4 L six family member 20

Clinical features

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