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X-linked intellectual disability, Snyder type

Disease definition

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.

ORPHA:3063

  • Synonym(s):
    • Snyder-Robinson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adolescent, Childhood
  • ICD-10: Q87.8
  • OMIM: 309583
  • UMLS: C0796160
  • MeSH: -
  • GARD: 5615
  • MedDRA: -

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