/spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Rare Disease

MONDO:0010051

Also Known As

spastic quadriplegia-retinitis pigmentosa-intellectual disability syndromeprogressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing lossprogressive quadriparesis, mental retardation, retinitis pigmentosa and hearing lossspastic quadriplegia retinitis pigmentosa intellectual disabilityspastic quadriplegia retinitis pigmentosa mental retardationspastic quadriplegia, retinitis pigmentosa, and intellectual disabilityspastic quadriplegia, retinitis pigmentosa, and mental retardation

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.