Senior-Loken syndrome
Joubert syndrome
Meckel-Gruber syndrome
Jeune syndrome (asphyxiating thoracic dystrophy syndrome)
Cogan syndrome
Alstrom (retinal dystrophy, hearing impairment, obesity, type 2 diabetes mellitus)
RHYNS (retinitis pigmentosa, hypopituitarism, and skeletal dysplasia)
