346 results

... ataxia MTTP Abetalipoproteinemia AR Ataxia 1 Anemia Acanthocytosis Retinitis pigmentosa Gastrointestinal disease SPART Troyer syndrome (SPG20) AR Spastic ...

... associated with known X-linked disorders such as retinitis pigmentosa , chronic granulomatous disease , and McLeod red cell phenotype ( ... expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985; ...

... have been identified in some individuals with a retinitis pigmentosa (RP)-like retinal dystrophy [ Davidson et al 2009 ], ... a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009; 85 :581–92. [ ...

... in one affected individual [ Gallagher et al 2011 ]. Retinitis pigmentosa has been reported in an affected female age ... S, Vijayalakshmi P. Weill-Marchesani syndrome associated with retinitis pigmentosa. Indian J Ophthalmol. 2007; 55 :142–3. [ PubMed : ...

... or auditory nerves. Ophthalmologic findings include optic atrophy, retinitis pigmentosa, strabismus, ptosis, nystagmus, and ophthalmoparesis. Pigmentary retinopathy was ...

... X-linked chronic granulomatous disease ( CYBB ), X-linked retinitis pigmentosa ( RPGR ), and ornithine transcarbamylase deficiency ( OTC ). See Genetically ... X-linked chronic granulomatous disease ) RPGR ( RPGR -related retinitis pigmentosa ) OTC ( ornithine transcarbamylase deficiency ) Note: Concurrent deletion of ...

... recessive; DD = developmental delay; HL = hearing loss; RP = retinitis pigmentosa; SNHL = sensorineural hearing loss 1. Digenic inheritance, in ... sensory input, as well as to evaluate for retinitis pigmentosa. Timing and order of diagnostic evaluation is individual ...