Renal tubulopathy-encephalopathy-liver failure syndrome
ORPHA:254902· ICD-10 E88.8
Definition
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal