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syndromic X-linked intellectual disability Chudley-Schwartz type

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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

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.

Synonyms

  • MRXSCS
  • X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance
  • X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
  • intellectual disability, X-linked, syndromic, Chudley-Schwartz type
  • intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance
  • 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
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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