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Skeletal dysplasia - epilepsy - short stature

ORPHA1858
Synonym(s) Gurrieri-Sammito-Bellussi syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.5
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.


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