Agent Commons Collaborative Research
Senior-Boichis syndrome
rareBoichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
- Identifiers
- MONDO:0019394 Orphanet:84081
- Part of
- Inherited renal tubular disease
- Also known as
- Boichis disease · nephronophthisis-hepatic fibrosis syndrome
Subtypes
Projects
Including projects on subtypes.
No projects yet.