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Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Synonym(s) Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10 -
MeSH -
MedDRA -


Disease definition

Spastic tetraplegia-retinitis pigmentosa-intellectual disability 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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