Синдром Жубера з нирковим дефектом
ORPHA:220497· ICD-10 Q04.3· Joubert syndrome with renal defect
Визначення(English summary)
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal