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GTR Home > Conditions/Phenotypes > Stuttering, familial persistent, 1

Summary

Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010). Stuttering typically arises in young children, where it affects at least 15% of those in age range 4 to 6 years (Bloodstein, 1995). Stuttering usually resolves spontaneously before adolescence, leading to a population prevalence of 1 to 2% among adults. Stuttering beyond childhood is characterized by a significant bias towards males, with males outnumbering females by a ratio of 3:1 to 5:1 (Yairi et al., 1996). Genetic Heterogeneity of Familial Persistent Stuttering Also see STUT2 (609261), mapped to chromosome 12q24; STUT3 (614655), mapped to chromosome 3q; and STUT4 (614668) mapped to chromosome 16q. [from OMIM]

Available tests

13 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: CPSQ4, SPG51, STUT1, AP4E1
    Summary: adaptor related protein complex 4 subunit epsilon 1

Clinical features

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