Hereditary hyperferritinemia-cataract syndrome

Disease Export to PDF
Name:
Hereditary hyperferritinemia-cataract syndrome
Description:
A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
ORPHAcode:
163
Synonyms:
Bonneau-Beaumont syndrome
HHCS
Hereditary hyperferritinemia with congenital cataracts
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14