141 results

... et al [2017] , Zlotogora et al [2018] DHDDS Retinitis pigmentosa, nonsyndromic AR c.124A>G p.Lys42Glu <100% ... et al [2010] , Lazarin et al [2013] EYS Retinitis pigmentosa AR c.9286_9295delGTAAATATCG p.Val3096LeufsTer28 <100% 4 ...

... males with Joubert syndrome, primary ciliary dyskinesia, and retinitis pigmentosa (see Table 3 ; reviewed in [ Pezzella et al ... al [2021] , Yang et al [2022] OFD1 -related retinitis pigmentosa Webb et al [2012] , Wang et al [2017] , ...

... IFT43 and IFT140 have been associated with isolated retinitis pigmentosa 81 (OMIM 617871 ) and isolated retinitis pigmentosa 80 (OMIM 617781 ), respectively. Other autosomal recessive phenotypes ...

... pigmentary retinopathy that may be indistinguishable from classic retinitis pigmentosa ; it can occasionally be severe with neonatal onset ... initially appear normal, a pigmentary retinopathy reminiscent of retinitis pigmentosa is frequently observed later in childhood. The electroretinogram ...

... Linked Adrenoleukodystrophy ABHD12 AR Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC) OMIM 612674 FXN AR Friedreich ataxia ...

... w/prominent neurologic & myopathic features >80 genes 4 Retinitis pigmentosa AD AR XL (Digenic) Progressive visual loss ADGRV1 ... recessive; Mat = maternal; MOI = mode of inheritance; RP = retinitis pigmentosa; SNHL = sensorineural hearing loss; XL = X-linked 1. ...

... of inheritance; NARP = neurogenic muscle weakness, ataxia, and retinitis pigmentosa; RP = retinitis pigmentosa; SCA = spinocerebellar ataxia 1. Abetalipoproteinemia ...

... X-CGD and clinical manifestations of McLeod syndrome, retinitis pigmentosa, Duchenne muscular dystrophy, and/or ornithine transcarbamylase deficiency ...

... XLRS). OFD1 RP2 RPGR (>80 genes) 1 Nonsyndromic retinitis pigmentosa XL 1 (AD, AR, digenic) RP: a group ... of inheritance; XL = X-linked; XLRP = X-linked retinitis pigmentosa; XLRS = X-linked congenital retinoschisis 1. More than ...