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  • Action Myoclonus - Renal Failure Syndrome

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    Action myoclonus - renal failure (AMRF) syndrome typically comprises a continuum of two major (and ultimately fatal) manifestations: progressive...
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  • Noonan Syndrome

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree....
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  • Tubulinopathies Overview

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    The tubulinopathies are a wide and overlapping range of brain malformations caused by mutation of one of seven genes encoding different isotypes of...
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  • Snyder-Robinson Syndrome

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome characterized by asthenic build, facial dysmorphism with a prominent...
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  • Pendred Syndrome/DFNB4

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by:...
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  • CHCHD10-Related Disorders

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    CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic findings that can include: Mitochondrial myopathy (may also be...
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  • Kabuki Syndrome

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid;
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  • Urea Cycle Disorders Overview

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    The urea cycle disorders (UCD) result from defects in the metabolism of waste nitrogen from the breakdown of protein and other nitrogen-containing...
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  • Free Sialic Acid Storage Disorders

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    The allelic disorders of free sialic acid metabolism - Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage...
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  • Mowat-Wilson Syndrome

    Remove:  GeneReviews source - - Publisher: Genereviews(r)
    Mowat-Wilson syndrome (MWS) is characterized by the following: Distinctive facial features. Structural anomalies including: Hirschsprung disease....
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