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186 Possible Causes for Autosomal Recessive Congenital Stationary Night Blindness

  • Autosomal Dominant Congenital Stationary Night Blindness Type 2

    . autosomal recessive complete congenital stationary night blindness autosomal recessive incomplete congenital stationary night blindness CONE-ROD SYNAPTIC DISORDER, CONGENITAL[ghr.nlm.nih.gov] This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field[ncbi.nlm.nih.gov] Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy.[ncbi.nlm.nih.gov]

  • Oguchi Disease Type 2

    Oguchi disease type 2 is a rare autosomal recessive form of congenital stationary night blindness.[ncbi.nlm.nih.gov] congenital stationary night blindness.[genome.jp] Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1, is an autosomal recessive form of congenital stationary night blindness[betterworldbooks.com]

  • Night Blindness

    Mutations in the GRM6 gene, which encodes the metabotropic glutamate receptor 6 (mGluR6), lead to autosomal recessive congenital stationary night blindness (CSNB), which is[ncbi.nlm.nih.gov] シソーラス検索結果 同義語(異表記): Autosomal Recessive Complete Congenital Stationary Night Blindness Autosomal Recessive Incomplete Congenital Stationary Night Blindness Autosomal Recessive[lsd-project.jp] Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness . Am J Hum Genet. 2016 May 5;98(5):1011-9.[disorders.eyes.arizona.edu]

  • 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]

  • 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]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    […] syndrome autosomal recessive hypotrichosis autosomal recessive incomplete congenital stationary night blindness, see autosomal recessive congenital stationary night blindness[mygenomics.com] , see chronic granulomatous disease autosomal recessive complete congenital stationary night blindness, see autosomal recessive congenital stationary night blindness autosomal[mygenomics.com] recessive congenital methemoglobinemia autosomal recessive congenital stationary night blindness Autosomal recessive craniometaphyseal dysplasia, see craniometaphyseal dysplasia[mygenomics.com]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] syndrome autosomal recessive hypotrichosis autosomal recessive incomplete congenital stationary night blindness, see autosomal recessive congenital stationary night blindness[mygenomics.com] , see chronic granulomatous disease autosomal recessive complete congenital stationary night blindness, see autosomal recessive congenital stationary night blindness autosomal[mygenomics.com] recessive congenital methemoglobinemia autosomal recessive congenital stationary night blindness Autosomal recessive craniometaphyseal dysplasia, see craniometaphyseal dysplasia[mygenomics.com]

  • 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]

  • Generalized Epilepsy with Febrile Seizures Plus

    Stationary Night Blindness, Type 1B, Night Blindness, Congenital Stationary , 1B, Autosomal Recessive, Congenital Stationary Night Blindness, Autosomal Dominant 2 Autosomal[genecards.weizmann.ac.il] Stationary Night Blindness, Type 1E, Night Blindness, Congenital Stationary , 1E, Autosomal Recessive, Blindness, Congenital Stationary Night Blindness, Autosomal Dominant[genecards.weizmann.ac.il] Recessive Congenital Stationary Night Blindness, Autosomal Dominant Congenital Stationary Night Blindness, Congenital Stationary Night Blindness, Autosomal Dominant 3, Fundus[genecards.weizmann.ac.il]

  • 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]

Further symptoms