Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

intellectual disability, X-linked, Snyder type

Orpha number ORPHA3063
Synonym(s) Snyder-Robinson syndrome
Prevalence <1 / 1 000 000
Inheritance
  • X-linked recessive
Age of onset Adolescence / Young adulthood
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. It has been described in 11 males. Transmission is X-linked recessive and the syndrome has been associated with a mutation in the spermine synthase (SMS) gene, localised to segment 22.1 on the short arm of the X chromosome (Xp22.1).


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Clinical genetics review
  • EN (2013)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.