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Spastic tetraplegia - retinitis pigmentosa - intellectual disability

Orpha number ORPHA3011
Synonym(s) Spastic quadriplegia - retinitis pigmentosa - intellectual disability
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.


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