Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
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.
Also known as spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome — per MONDO