Синдром катаракти - нефропатії - енцефалопатії
ORPHA:1380· ICD-10 Q87.8· Cataract-nephropathy-encephalopathy syndrome
Визначення(English summary)
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal