Presentation
Entire Body System
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Developmental Delay
delay, 613094 GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 GJA1 Atrioventricular septal defect 3 600309 GJA1 Craniometaphyseal dysplasia, autosomal recessive, 218400 GJA1 Erythrokeratodermia [qgenomics.com]
Cardiovascular
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Hypertension
Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]
Eyes
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Night Blindness
Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]
Treatment
At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]
Prevention
anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]