Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia. Cysteine deposition is most evident in the conjunctiva and cornea.
Abderhalden–Kaufmann–Lignac syndrome
Smith–Magenis syndrome
Wilson–Turner syndrome
Daentl Townsend Siegel syndrome
Marshall–Smith syndrome
Rothmund–Thomson syndrome
Weissenbacher–Zweymüller syndrome
Bardet–Biedl syndrome