Phenotypes for disease #00058 (CORD (dystrophy, cone-rod (CORD)))

361 entries on 4 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Diagnosis/Initial     
Inheritance     
Age/Examination     
Diagnosis/Definite     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Phenotype details     
Protein     
Owner     
Individual ID     
0000000026 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00000210
0000026160 - Unknown - - - - - - - Pascal Escher 00032731
0000026161 - Unknown - - - - - - - Pascal Escher 00032732
0000026179 - Unknown - - - - - - - Pascal Escher 00032750
0000026194 - Unknown - - - - - - - Pascal Escher 00032765
0000026197 - Unknown - - - - - - - Pascal Escher 00032768
0000026201 - Unknown - - - - - - - Pascal Escher 00032772
0000026260 - Unknown - - - - - - - Pascal Escher 00032831
0000026467 - Unknown - - - - - early onset - Johan den Dunnen 00033038
0000026469 - Unknown - - - - - early onset - Johan den Dunnen 00033040
0000026474 - Unknown - - - - - early onset - Johan den Dunnen 00033045
0000026475 - Unknown - - - - - early onset - Johan den Dunnen 00033046
0000026476 - Unknown - - - - - early onset, retinal telangiectasia, retinitis pigmentosa - Johan den Dunnen 00033047
0000026477 - Unknown - - - - - early onset, retinal telangiectasia, retinitis pigmentosa - Johan den Dunnen 00033048
0000026478 - Unknown - - - - - early onset, retinal telangiectasia, retinitis pigmentosa - Johan den Dunnen 00033049
0000026479 - Unknown - - - - - early onset, retinal telangiectasia, retinitis pigmentosa - Johan den Dunnen 00033050
0000026480 - Unknown - - - - - early onset, retinal telangiectasia, retinitis pigmentosa - Johan den Dunnen 00033051
0000026481 - Unknown - - - - - early onset, retinal telangiectasia, retinitis pigmentosa - Johan den Dunnen 00033052
0000026484 - Unknown - - - - - early onset - Johan den Dunnen 00033055
0000026486 - Unknown - - - - - early onset - Johan den Dunnen 00033057
0000026492 - Unknown - - - - - early onset - Johan den Dunnen 00033063
0000026501 - Unknown - - - - - early onset - Johan den Dunnen 00033072
0000026502 - Unknown - - - - - early onset - Johan den Dunnen 00033073
0000026503 - Unknown - - - - - early onset - Johan den Dunnen 00033074
0000026504 - Unknown - - - - - early onset, retinal telangiectasia - Johan den Dunnen 00033075
0000026507 - Unknown - - - - - early onset, retinal telangiectasia - Johan den Dunnen 00033078
0000026790 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00033361
0000026798 - Familial, autosomal recessive - - - - - Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light - Raheel Qamar 00033369
0000026799 - Familial, autosomal recessive - - - - - Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light - Raheel Qamar 00033370
0000027034 - Familial, autosomal recessive - - - - - Cone-rod dystrophy with nystagmus - Marcel Nelen 00033605
0000027040 - Familial, autosomal recessive - - - - - cone-rod dystrophy with polydactyly - Kornelia Neveling 00033611
0000027041 - Familial, autosomal recessive - - - - - - - Kornelia Neveling 00033612
0000027096 - Isolated (sporadic) - - - - - CRD; progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced - Nathalie Bax 00033667
0000027101 - Familial, autosomal recessive - - - - - cone-rod dystrophy (HP:0000510); progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced - Nathalie Bax 00033672
0000027139 - Familial, autosomal recessive - - - 30y - cone-rod dystrophy (HP:0000510); bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced. - Monika Oldak 00033710
0000027924 - Familial, autosomal recessive - - - - - cone-rod dystrophy - Zubair Ahmed 00034520
0000028829 - Familial, autosomal recessive 11y - - 11y progressive visual loss childhood cone-rod dystrophy and macular cystic degeneration - Frans Cremers 00038286
0000028830 - Familial, autosomal recessive 7y - - 7y progressive visual loss childhood cone-rod dystrophy and macular cystic degeneration - Frans Cremers 00038287
0000028831 - Familial, autosomal recessive 7y - - 7y macular cystic degeneration childhood cone-rod dystrophy and macular cystic degeneration - Frans Cremers 00038288
0000028890 - Familial, autosomal recessive - - - - ? ? - Frans Cremers 00038347
0000034252 - Familial, autosomal recessive - - - - - visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510) - Csilla Lazar 00046458
0000039022 - Familial, autosomal recessive - - - 0d - cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected - Muhammad Ajmal 00052445
0000039023 - Familial, autosomal recessive - - - 0d - cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected - Muhammad Ajmal 00052446
0000039024 - Familial, autosomal recessive - - - 0d - cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected - Muhammad Ajmal 00052447
0000039025 - Familial, autosomal recessive - - - 0d - cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected - Muhammad Ajmal 00052448
0000039194 - Familial, autosomal recessive - - - - - cone-rod dystrophy - Muhammad Ajmal 00052617
0000039196 - Unknown - - - - - cone-rod dystrophy - Muhammad Ajmal 00052619
0000039332 - Familial, autosomal recessive - - - 5y - cone-rod dystrophy; pale optic disc, bull's eye maculopathy, thin retinal arteries, and increased granularity of the RPE in the periphery - Muhammad Ajmal 00052755
0000039333 - Familial, autosomal recessive - - - 6y fine oscillatory nystagmus was described. There was a moderate hypermetropic in both eyes. Some form of ocular albinism was suspected cone-rod dystrophy; slightly increased granularity in the macula, together with decreased muscular reflex, minimal thinning of the retinal arteries and increased granularity of the RPE in the periphery, together with a very blond fundus in the circumpapillary area - Muhammad Ajmal 00052756
0000039334 - Familial, autosomal recessive - - - 7y night blindness was noted by parents . no photophobia, pale optic disc cone-rod dystrophy; slightly pale optic disc, slightly increased granularity in the macula, and normal retinal vessels. - Muhammad Ajmal 00052757
0000039335 - Familial, autosomal recessive - - - 3y visual Impairment in darkened environment cone-rod dystrophy; clearly increased granularity of the RPE in the periphery, normal retinal vessels - Muhammad Ajmal 00052758
0000046282 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059790
0000046286 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059794
0000046288 - Familial, autosomal recessive - - - - - spastic paraparesis, white matter disease - Leen Abu Safieh 00059796
0000053519 - Familial, autosomal recessive 50y - - - - RCD diagnosed in late teens; 35y-night blindness followed by changes in midperipheral visual fields/undetectable responses in full-field electroretinogram by approximately; 50y-overweight, complained of moderate hearing difficulties; best-corrected visual acuity 20/800 (R), 20/640 (L); kinetic visual-field test revealed decreased central retinal sensitivity, bilateral peripheral-field constriction; typical RCD fundus changeswith additional macular thinning - Marianne Vos (LOVD-team) 00016848
0000053520 - Familial, autosomal recessive 34y - - - - BCVA 20/20 both eyes; annular scotoma in the midperiphery; preservation of the peripheral isopter; Typical RCD fundus changes with macular preservation. - Marianne Vos (LOVD-team) 00017031
0000053521 - Familial, autosomal recessive 51y - - - - Well tolerated congenital ichthyosis; BCVA was 20/40 right eye; 20/32 left; A binocular kinetic visual field was reduced to the central 10 with bitemporal islands of perception peripherally. Typical RCD Fundus changes with relative macular preservation - Marianne Vos (LOVD-team) 00017032
0000054259 - Familial, autosomal recessive - - - - - - - Konstantinos Nikopoulos 00074440
0000054267 - Familial, autosomal recessive - - - - - - - Konstantinos Nikopoulos 00074439
0000054297 - Familial, autosomal recessive - - - - - see paper; ..., diagnoised with CORD+SNHL (cone-rod degeneration with sensorineural hearing loss) - Prasanthi Namburi 00074490
0000054483 - Isolated (sporadic) - - - - unknown cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) - Stéphanie Cornelis 00074708
0000054484 - Isolated (sporadic) - - - - unknown cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) - Stéphanie Cornelis 00074709
0000054485 - Isolated (sporadic) - - - - unknown cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) - Stéphanie Cornelis 00074710
0000054486 - Isolated (sporadic) - - - - unknown cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548) - Stéphanie Cornelis 00074711
0000054502 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074727
0000054503 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074728
0000054504 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074729
0000054505 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074730
0000054506 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074731
0000054507 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074732
0000054508 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074733
0000054509 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074734
0000054510 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074735
0000054511 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074736
0000054512 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074737
0000054513 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074738
0000054514 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074739
0000054515 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074740
0000054516 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074741
0000054517 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074742
0000054518 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074743
0000054519 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074744
0000054520 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074745
0000054521 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074746
0000054522 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074747
0000054523 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510) - Stéphanie Cornelis 00074748
0000054576 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks - Stéphanie Cornelis 00074801
0000054577 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks - Stéphanie Cornelis 00074802
0000054578 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks - Stéphanie Cornelis 00074803
0000054579 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks - Stéphanie Cornelis 00074804
0000054580 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks - Stéphanie Cornelis 00074805
0000054581 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks - Stéphanie Cornelis 00074806
0000054582 - Familial, autosomal recessive - - - - unknown cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks - Stéphanie Cornelis 00074807
0000054606 - Unknown - - - - unknown cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) - Stéphanie Cornelis 00074831
0000054612 - Unknown - - - - unknown cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) - Stéphanie Cornelis 00074837
0000054616 - Unknown - - - - unknown cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) - Stéphanie Cornelis 00074841
0000054620 - Unknown - - - - unknown cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) - Stéphanie Cornelis 00074845
0000054682 - Unknown - - - - unknown cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) - Stéphanie Cornelis 00074907
0000054683 - Unknown - - - - unknown cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) - Stéphanie Cornelis 00074908
0000054684 - Unknown - - - - unknown cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) - Stéphanie Cornelis 00074909
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