/spastic paraplegia-glaucoma-intellectual disability syndrome

spastic paraplegia-glaucoma-intellectual disability syndrome

Rare Disease

MONDO:0010049

Also Known As

spastic paresis glaucoma intellectual disabilityspastic paresis glaucoma mental retardationspastic paresis, glaucoma, and intellectual disabilityspastic paresis, glaucoma, and mental retardation

Definition

Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.