Синдром втрати слуху-сімейна нечутливості слинних залоз до альдостерону
ORPHA:3225· ICD-10 E34.8· Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Визначення(English summary)
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy, Neonatal