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X-linked intellectual disability, Snyder type

Orpha number ORPHA3063
Synonym(s) Snyder-Robinson syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Adolescent
Childhood
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.


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Detailed information

Clinical genetics review
  • EN (2013)
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