1. Obesity, mental deficiency, polydactly, retinitis pigmentosa and hypogonadism

 2. Retinitis pigmentosa and neurosensory deafness

 3. Retinitis pigmentosa, cerebellar ataxia and polyneuritis

 4. Tall stature, arachnodactyly, lens dislocation, high arch palate and cardiac valvular incompetence

 5. Congenital blindness, retinal masses, deafness, mental retardation and cerebral degeneration

 6. Neurodegenerative disorders, cherry red spots in the retina

 7. Cafe-au-lait spots, neurofibroma, fibrous lesions of the bone

 8. Neurodegerative disease of childhood, retinitis pigmentosa, epilepsy and intellectual degeneration

 9. Globe retraction and narrowing of lids with adduction

10. Short stature, cloudy cornea, coarse facies and hepatosplenomegaly

11. Sudden bilateral visual loss in early adulthood