Laurence-Moon syndrome?
Pagon
R A
RA
D000293:Adolescent; D003937:Diagnosis, Differential; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis*; D007849:Laurence-Moon Syndrome / Q000175:diagnosis*; D008297:Male; D009886:Ophthalmoplegia / Q000175:diagnosis*