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Синдром хвостоподібного придатку-глухоти

ORPHA:1123· ICD-10 Q87.8· Caudal appendage-deafness syndrome

Визначення(English summary)

Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.

Поширеність
<1 / 1 000 000
Вік початку
Neonatal