hereditary hyperferritinemia with congenital cataracts
MONDO:0010952Also known as: HHCS, Hyperferritinemia Cataract Syndrome, hereditary hyperferritinemia-cataract syndrome, HRFTC, cataract-hyperferritinemia syndrome
Rare disease45 associated genes
Description
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
Associated genes
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