Human genes for hyperferritinemia-cataract syndrome
Hyperferritinemia-cataract syndrome [DOID:0111256]
A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
Synonyms: hyperferritinemia-cataract syndrome, DOID:0111256, hyperferritinemiacataract syndrome, hyperferritinemia-cataract disease, hyperferritinemia-cataract disorder ...