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Syndromic X-linked intellectual disability Chudley-Schwartz type

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A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.

Identifiers
MONDO:0010462 OMIM:300861
Part of
X-linked syndromic intellectual disability
Also known as
intellectual disability, X-linked, syndromic, Chudley-Schwartz type · mental retardation, X-linked, syndromic, Chudley-Schwartz type · mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive · mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance · MRXSCS

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