title: Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis.
authors.forename: T
authors.initials: T
authors.lastname: Kondoh
authors.forename: E
authors.initials: E
authors.lastname: Kinoshita
authors.forename: H
authors.initials: H
authors.lastname: Moriuchi
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: M
authors.initials: M
authors.lastname: Masuno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002657:Child Development; D003409:Congenital Hypothyroidism; D003456:Cryptorchidism / Q000235:genetics / Q000503:physiopathology; D019066:Facies; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000503:physiopathology; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D008268:Macular Degeneration / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D013577:Syndrome