Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis.
Kondoh
T
T
Kinoshita
E
E
Moriuchi
H
H
Niikawa
N
N
Matsumoto
T
T
Masuno
M
M
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