Phenotypes for disease #04250 (retinal degeneration)

78 entries on 1 page. Showing entries 1 - 78.
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Individual ID     
0000028643 early-onset retinal degeneration, bone spicule pigmentation, pale and atrophic optic disc, nystagmus, exotrophia, severe hypermetropia - - Familial, autosomal recessive - - - ? - Frans Cremers 00038100
0000028644 early-onset retinal degeneration, bone spicule pigmentation, attenuated vessels, pale and atrophic optic disc, nystagmus, severe hypermetropia - - Familial, autosomal recessive - - - ? - Frans Cremers 00038101
0000028645 early-onset retinal degeneration, bone spicule pigmentation, attenuated vessels, pale and atrophic optic disc, nystagmus, severe hypermetropia - - Familial, autosomal recessive - - - ? - Frans Cremers 00038102
0000028646 early-onset retinal degeneration, bone spicule pigmentation, attenuated vessels, pale and atrophic optic disc, nystagmus, keratoconus - - Familial, autosomal recessive - - - ? - Frans Cremers 00038103
0000028704 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 0.6y ? - Frans Cremers 00038161
0000028705 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 4y ? - Frans Cremers 00038162
0000028706 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 5y ? - Frans Cremers 00038163
0000028707 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 8y ? - Frans Cremers 00038164
0000028708 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 13y ? - Frans Cremers 00038165
0000028709 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 13y ? - Frans Cremers 00038166
0000028710 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 20y ? - Frans Cremers 00038167
0000028711 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 22y ? - Frans Cremers 00038168
0000028712 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 25y ? - Frans Cremers 00038169
0000028713 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 25y ? - Frans Cremers 00038170
0000028714 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 26y ? - Frans Cremers 00038171
0000028715 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 26y ? - Frans Cremers 00038172
0000028716 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 27y ? - Frans Cremers 00038173
0000028717 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 27y ? - Frans Cremers 00038174
0000028718 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 29y ? - Frans Cremers 00038175
0000028719 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 34y ? - Frans Cremers 00038176
0000028720 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 38y ? - Frans Cremers 00038177
0000028721 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 44y ? - Frans Cremers 00038178
0000028722 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 47y ? - Frans Cremers 00038179
0000028723 Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head - - Familial, autosomal recessive - - 48y ? - Frans Cremers 00038180
0000028861 Retinal degeneration - - Unknown - - - ? - Frans Cremers 00038318
0000039244 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052667
0000039245 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052668
0000039246 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052669
0000039247 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052670
0000039248 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052671
0000039249 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052672
0000039250 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052673
0000039251 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052674
0000039252 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052675
0000039253 retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus - - Familial, autosomal recessive - - - visual problems - Muhammad Ajmal 00052676
0000039307 retinal degeneration - - Familial, autosomal recessive - - 2y night blindness - Muhammad Ajmal 00052730
0000039308 retinal degeneration - - Familial, autosomal recessive - - 4m nystagmus fixation on light - Muhammad Ajmal 00052731
0000039309 retinal degeneration - - Familial, autosomal recessive - - 3y night blindness - Muhammad Ajmal 00052732
0000039310 retinal degeneration - - Familial, autosomal recessive - - 7m nystagmus fixation on light - Muhammad Ajmal 00052733
0000039311 retinal degeneration - - Familial, autosomal recessive - - - night blindness, toddler, nystagmus - Muhammad Ajmal 00052734
0000039312 retinal degeneration - - Familial, autosomal recessive - - 5y night blindness - Muhammad Ajmal 00052735
0000039313 retinal degeneration - - Familial, autosomal recessive - - 0d night blindness - Muhammad Ajmal 00052736
0000039314 retinal degeneration - - Familial, autosomal recessive - - 2y nystagmus, night blindness - Muhammad Ajmal 00052737
0000039315 retinal degeneration - - Familial, autosomal recessive - - 3y nystagmus, night blindness, poor visual acuity - Muhammad Ajmal 00052738
0000039316 retinal degeneration - - Familial, autosomal recessive - - - infancy onset nystagmus, night blindness, poor visual acuity - Muhammad Ajmal 00052739
0000039317 retinal degeneration - - Familial, autosomal recessive - - - infancy onset nystagmus, night blindness, poor visual acuity - Muhammad Ajmal 00052740
0000039318 retinal degeneration - - Unknown - - 3y nystagmus - Muhammad Ajmal 00052741
0000039319 retinal degeneration - - Familial, autosomal recessive - - 3y nystagmus, night blindness, poor vision - Muhammad Ajmal 00052742
0000039320 retinal degeneration - - Familial, autosomal recessive - - 6m nystagmus, night blindness, poor vision - Muhammad Ajmal 00052743
0000039321 retinal degeneration - - Familial, autosomal recessive - - 0d nystagmus, night blindness, poor vision - Muhammad Ajmal 00052744
0000039322 retinal degeneration - - Familial, autosomal recessive - - - 3y-7y nystagmus, night blindness - Muhammad Ajmal 00052745
0000039323 retinal degeneration - - Familial, autosomal recessive - - >5y nystagmus - Muhammad Ajmal 00052746
0000039324 retinal degeneration - - Familial, autosomal recessive - - 5y nystagmus, night blindness - Muhammad Ajmal 00052747
0000039325 retinal degeneration - - Unknown - - - - - Muhammad Ajmal 00052748
0000039326 retinal degeneration - - Unknown - - - - - Muhammad Ajmal 00052749
0000039327 retinal degeneration - - Unknown - - - - - Muhammad Ajmal 00052750
0000039328 retinal degeneration - - Unknown - - - - - Muhammad Ajmal 00052751
0000039329 retinal degeneration - - Unknown - - - - - Muhammad Ajmal 00052752
0000039330 retinal degeneration - - Unknown - - - - - Muhammad Ajmal 00052753
0000039331 retinal degeneration - - Familial, autosomal recessive - - - - - Muhammad Ajmal 00052754
0000041526 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00054743
0000201823 inherited retinal degeneration (HP:0000546), retinal dystrophy (HP:0000556) - - Familial, autosomal recessive - - - - - Jasmine Chen 00263964
0000201824 - - - Familial, autosomal recessive - - - - - Jasmine Chen 00263965
0000245493 - Bilateral small optic nerves, nystagmus - Splitting between the inner nuclear and the outer plexiform layer in left eye consistent with retinoschisis -Congenital cataracts, nystagmus, retinoschisis OS - - Familial, autosomal dominant 11y - - Congenital - Lance P Doucette 00327049
0000245495 Bilateral congenital cataracts, amblyopia, exotropia - - Familial, autosomal dominant 07y - - - - Lance P Doucette 00327050
0000270733 Progressive retinal degeneration with maculopathy - - Familial, autosomal dominant - - - - - Rinki Ratnapriya 00375519
0000306592 see paper; ..., isolated cone dysfunction, bilateral optic atrophy, Pelger-Huët anomaly, no short stature, no recurrent acute liver failure, no susceptibility to infections - - Familial, autosomal recessive - - - - - Nicole Weisschuh 00414792
0000350742 see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 1, OS 1; fundus early macular atrophy; ERG 36y-cone dystrophy reduced visual acuity - Familial, X-linked recessive 35y - - - - Johan den Dunnen 00465206
0000350743 see paper; ..., night blindness, reduced visual acuity; onset early childhood; fundus retinitis pigmentosa; OD light perception, OS no light perception; fundus retinitis pigmentosa non-syndromic X-linked retinal degeneration - Familial, X-linked recessive 20y-29y - - night blindness, reduced visual acuity - Johan den Dunnen 00465207
0000350744 see paper; ..., night blindness, reduced visual acuity; onset early childhood; fundus retinitis pigmentosa non-syndromic X-linked retinal degeneration - Familial, X-linked recessive - - - night blindness, reduced visual acuity - Johan den Dunnen 00465208
0000350745 see paper; ..., night blindness, reduced visual acuity; onset early childhood; fundus retinitis pigmentosa non-syndromic X-linked retinal degeneration - Familial, X-linked recessive - - - night blindness, reduced visual acuity - Johan den Dunnen 00465209
0000350746 see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 0,48, OS 0,48; fundus early macular atrophy; ERG 32y-cone-rod dystrophy reduced visual acuity, light sensitivity - Familial, X-linked recessive 32y - - - - Johan den Dunnen 00465210
0000350747 see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 1,3, OS 1,1; fundus early macular atrophy; ERG 47y-cone-rod dystrophy reduced visual acuity, light sensitivity - Familial, X-linked recessive 47y - - - - Johan den Dunnen 00465211
0000350748 see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 0,48, OS 0,78; fundus Bull's eye maculopathy; ERG 27y-cone-rod dystrophy reduced visual acuity, light sensitivity - Familial, X-linked recessive 26y - - - - Johan den Dunnen 00465212
0000350749 see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,18, OS 0,3; fundus abnormal reflex; ERG 17y-cone dystrophy reduced visual acuity - Familial, X-linked recessive 29y - - - - Johan den Dunnen 00465213
0000350750 see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus early macular atrophy; ERG 24y-macular dystrophy reduced visual acuity - Familial, X-linked recessive 23y - - - - Johan den Dunnen 00465214
0000350751 see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus Bull's eye maculopathy; ERG 23y-macular dystrophy reduced visual acuity - Familial, X-linked recessive 21y - - - - Johan den Dunnen 00465215
0000350752 see paper; ..., reduced visual acuity, Turner Syndrome; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus early macular atrophy; ERG 19y-cone dystrophy reduced visual acuity, Turner Syndrome - Familial, X-linked recessive 19y - - - - Johan den Dunnen 00465216
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