• Disability

  AR 94.8 11 of 12 SPEF2 Primary Ciliary Dyskinesia AR 99.6 10 of 13 SRD5A3 Congenital Disorder Of Glycosylation, Kahrizi Syndrome AR 100 15 of 15 STK36 Primary Ciliary Dyskinesia 100 5 of 5 TELO2 You-Hoover-Fong Syndrome, Telo2- related Intellectual Disability [igenomix.es]

• Fever

  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]

• Multiple Congenital Anomalies

  […] amaurosis 1204000 HARSCharcot-Marie-Tooth disease, axonal, type 2W,616625 HARSUsher syndrome type 3B,614504 HCCSLinear skin defects with multiple congenital anomalies 1309801 HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C),252930 HGSNATRetinitis [qgenomics.com]

• Night Blindness

  Blindness X,XR,G 100 – CACNA2D4 Retinal Cone Dystrophy, Cone Rod Dystrophy, Congenital Stationary Night Blindness AR 99.64 7 of 7 CC2D2A Coach Syndrome, Joubert Syndrome, Meckel Syndrome AR 99.43 98 of 100 CCDC103 Primary Ciliary Dyskinesia AR 99.92 [igenomix.es]

  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]

Treatment possibilities for retinitis pigmentosa. Jacobson SG, Cideciyan AV. Jacobson SG, et al. N Engl J Med. 2010 Oct 21;363(17):1669-71. doi: 10.1056/NEJMcibr1007685. N Engl J Med. 2010. PMID: 20961252 No abstract available. [pubmed.ncbi.nlm.nih.gov]