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X-linked intellectual disability, Snyder type

Synonym(s) Snyder-Robinson syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Adolescent
  • Q87.8
MeSH -
MedDRA -


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.

Expert reviewer(s)

  • Dr Ségolène AYME

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Detailed information

Clinical genetics review
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