Presentation
Entire Body System
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Anemia
Bardet-Biedl syndrome 11615988 TRNT1Retinitis pigmentosa and erythrocytic microcytosis,616959 TRNT1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084 TRPM1Night blindness, congenital stationary (complete [qgenomics.com]
Cardiovascular
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Hypertension
Night blindness, congenital stationary, type 1G,616389 GNAT2Achromatopsia-4,613856 GNB3Night blindness, congenital stationary, type 1H,617024 GNB3{Hypertension, essential, susceptibility to},145500 GNPTGMucolipidosis III gamma,252605 GPR143Nystagmus 6 [qgenomics.com]
Eyes
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Night Blindness
Night blindness, congenital stationary, type 1G,616389 GNAT2Achromatopsia-4,613856 GNB3Night blindness, congenital stationary, type 1H,617024 GNB3{Hypertension, essential, susceptibility to},145500 GNPTGMucolipidosis III gamma,252605 GPR143Nystagmus 6 [qgenomics.com]