syndromic X-linked intellectual disability Snyder type

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Disease Overview

Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.


Synonyms

  • MRXSSR
  • SRS
  • Snyder-Robinson Syndrome
  • Snyder-Robinson intellectual disability syndrome
  • Snyder-Robinson mental retardation syndrome
  • Snyder-Robinson syndrome
  • X-linked intellectual disability Snyder-Robinson type
  • X-linked intellectual disability, Snyder type
  • X-linked mental retardation Snyder-Robinson type
  • intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive
  • intellectual disability, X-linked, Snyder-Robinson type
  • intellectual disability, X-linked, syndromic, Snyder-Robinson type
  • mental retardation, X-linked, Snyder-Robinson type
  • mental retardation, X-linked, syndromic, Snyder-Robinson type
  • spermine synthase deficiency
  • syndromic X-linked intellectual disability Snyder 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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