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7q31 microdeletion syndrome

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Description

A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.

SNOMEDCT_US

  • Mode of Inheritance

    VARIANTS

    0

    Genes

      External Links

      • OMIM
      • Orphanet

        251061

      • HPO
      • Medgen

        C4750783

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