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Синдром глухоти-вушної деформації-лицевого паралічу

ORPHA:3232· ICD-10 Q87.0· Deafness-ear malformation-facial palsy syndrome

Визначення(English summary)

Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.

Поширеність
<1 / 1 000 000
Вік початку
Neonatal