intellectual disability, X-linked syndromic, Turner type

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Disease Overview

An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.


Synonyms

  • Brooks Wisniewski Brown syndrome
  • Brooks-Wisniewski-Brown Syndrome
  • Brooks-Wisniewski-Brown syndrome
  • Juberg-Marsidi Syndrome
  • MRXST
  • X-linked intellectual disability, Brooks type
  • X-linked intellectual disability, Turner type
  • X-linked mental retardation Brooks type
  • intellectual disability, X-linked syndromic, Turner type
  • mental retardation and macrocephaly syndrome
  • mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism
  • mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type
  • mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type
  • mental retardation, X-linked, syndromic, Turner type
  • syndromic X-linked intellectual disability Turner type

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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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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