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208 Possible Causes for Autosomal Dominant Congenital Stationary Night Blindness

  • Autosomal Dominant Congenital Stationary Night Blindness Type 2

    We studied three members of three successive generations of a family with autosomal dominant congenital stationary night blindness and normal fundi.[ncbi.nlm.nih.gov] Three cases in three successive generations of one family with autosomal dominant congenital stationary night blindness are presented.[ncbi.nlm.nih.gov] Abstract Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO), transducin[ncbi.nlm.nih.gov]

  • Autosomal Recessive Deafness 42

    stationary night blindness, autosomal dominant 1 1 Congenital stationary night blindness, autosomal recessive 10 10 Congenital stationary night blindness, X-linked 2 2 Leber[sph.uth.edu] stationary night blindness, autosomal dominant none GNAT1, PDE6B, RHO Congenital stationary night blindness, autosomal recessive none CABP4, GNAT1, GNB3, GPR179, GRK1, GRM6[sph.uth.edu] , LRIT3, RDH5, SAG, SLC24A1, TRPM1 Congenital stationary night blindness, X-linked none CACNA1F, NYX Deafness alone or syndromic, autosomal dominant none ESPN, WFS1 Deafness[sph.uth.edu]

  • Retinitis Pigmentosa 23

    stationary night blindness, autosomal dominant 1 1 Congenital stationary night blindness, autosomal recessive 10 10 Congenital stationary night blindness, X-linked 2 2 Leber[sph.uth.edu] […] nystagmus Myo7a congenital stationary night blindness Abca4 , Pde6b , Rbp3 , Rho , Rpgr , Sag congenital stationary night blindness autosomal dominant 1 Rho congenital stationary[rgd.mcw.edu] […] nystagmus Myo7a congenital stationary night blindness Abca4, Pde6b, Rbp3, Rho, Rpgr, Sag congenital stationary night blindness autosomal dominant 1 Rho congenital stationary[rgd.mcw.edu]

  • Autosomal Recessive Deafness 24

    stationary night blindness, autosomal dominant 1 1 Congenital stationary night blindness, autosomal recessive 10 10 Congenital stationary night blindness, X-linked 2 2 Leber[sph.uth.edu] stationary night blindness, autosomal dominant none GNAT1, PDE6B, RHO Congenital stationary night blindness, autosomal recessive none CABP4, GNAT1, GNB3, GPR179, GRK1, GRM6[sph.uth.edu] , LRIT3, RDH5, SAG, SLC24A1, TRPM1 Congenital stationary night blindness, X-linked none CACNA1F, NYX Deafness alone or syndromic, autosomal dominant none ESPN, WFS1 Deafness[sph.uth.edu]

  • Deafness, Autosomal Dominant 23

    stationary night blindness, autosomal dominant 1 1 Congenital stationary night blindness, autosomal recessive 10 10 Congenital stationary night blindness, X-linked 2 2 Leber[sph.uth.edu] stationary night blindness, autosomal dominant none GNAT1, PDE6B, RHO Congenital stationary night blindness, autosomal recessive none CABP4, GNAT1, GNB3, GPR179, GRK1, GRM6[sph.uth.edu] , LRIT3, RDH5, SAG, SLC24A1, TRPM1 Congenital stationary night blindness, X-linked none CACNA1F, NYX Deafness alone or syndromic, autosomal dominant none ESPN, WFS1 Deafness[sph.uth.edu]

  • Autosomal Recessive Deafness 23

    stationary night blindness, autosomal dominant 1 1 Congenital stationary night blindness, autosomal recessive 10 10 Congenital stationary night blindness, X-linked 2 2 Leber[sph.uth.edu] stationary night blindness, autosomal dominant none GNAT1, PDE6B, RHO Congenital stationary night blindness, autosomal recessive none CABP4, GNAT1, GNB3, GPR179, GRK1, GRM6[sph.uth.edu] , LRIT3, RDH5, SAG, SLC24A1, TRPM1 Congenital stationary night blindness, X-linked none CACNA1F, NYX Deafness alone or syndromic, autosomal dominant none ESPN, WFS1 Deafness[sph.uth.edu]

  • Familial Benign Flecked Retina

    , congenital stationary type 3 (GNAT1) Night blindness, congenital stationary, autosomal dominant type 2 (PDE6B) Night blindness, congenital stationary, type 1E (GPR179) Nonarteritic[oftalmic.ru] […] fibrosis of the extraocular muscles congenital stationary night blindness corneal dystrophy Cornea Plana 2 CSNB1C Drusen, Radial, Autosomal Dominant Duane retraction syndrome[familydiagnosis.com] Stationary Night Blindness, Autosomal Dominant Congenital Stationary Night Blindness, Autosomal Recessive Congenital Stationary Night Blindness, X-Linked Enhanced S-Cone[oftalmic.ru]

  • Autosomal Recessive Deafness 22

    stationary night blindness, autosomal dominant 1 1 Congenital stationary night blindness, autosomal recessive 10 10 Congenital stationary night blindness, X-linked 2 2 Leber[sph.uth.edu] stationary night blindness, autosomal dominant none GNAT1, PDE6B, RHO Congenital stationary night blindness, autosomal recessive none CABP4, GNAT1, GNB3, GPR179, GRK1, GRM6[sph.uth.edu] , LRIT3, RDH5, SAG, SLC24A1, TRPM1 Congenital stationary night blindness, X-linked none CACNA1F, NYX Deafness alone or syndromic, autosomal dominant none ESPN, WFS1 Deafness[sph.uth.edu]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    autosomal dominant cerebrovascular amyloidosis, see hereditary cerebral amyloid angiopathy autosomal dominant congenital stationary night blindness Autosomal dominant craniometaphyseal[mygenomics.com] dominant cerebellar ataxia, deafness, and narcolepsy ADCADN, see autosomal dominant cerebellar ataxia, deafness, and narcolepsy adCSNB, see autosomal dominant congenital[mygenomics.com] stationary night blindness ADCY5-related dyskinesia ADDH, see Pol III-related leukodystrophy Addison disease and cerebral sclerosis, see X-linked adrenoleukodystrophy adducted[mygenomics.com]

  • Polyglucosan Body Myopathy Type 2

    autosomal dominant cerebrovascular amyloidosis, see hereditary cerebral amyloid angiopathy autosomal dominant congenital stationary night blindness Autosomal dominant craniometaphyseal[mygenomics.com] blindness, congenital stationary, autosomal dominant 1 Nonaka myopathy Non-ketotic hyperglycinemia Noonan syndrome 1 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5[pentacorelab.hu] dominant cerebellar ataxia, deafness, and narcolepsy ADCADN, see autosomal dominant cerebellar ataxia, deafness, and narcolepsy adCSNB, see autosomal dominant congenital[mygenomics.com]

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