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Order By:
Disease
SR Number
Age at First Visit
Number of Visits
IB: Syndromic
20/40 -1
10/300 sc
SR479 - Alpha Mannosidosis
Hand Motion
Hand Motion
SR32 - Bardet Biedl Syndrome
Hand Motion sc
Hand Motion sc
SR56 - Bardet Biedl Syndrome
5/180 sc
5/140 sc
SR114 - Bardet Biedl Syndrome
Hand Motion sc
Hand Motion sc
SR321 - Bardet Biedl Syndrome
20/40 -2
20/40
SR343 - Bardet Biedl Syndrome
Hand Motion 1' sc
Light Perception
SR451 - Bardet Biedl Syndrome
5/180
5/225
SR540 - Bardet Biedl Syndrome
20/50
20/50 -1
SR1058 - Bardet Biedl Syndrome
20/1000 sc
20/500 sc
SR1065 - Bardet Biedl Syndrome
1/200
1/200
SR1897 - Bardet Biedl Syndrome
20/50 +1
20/50 +1
SR1914 - Bardet Biedl Syndrome
5/400
10/300
SR2059 - Bardet Biedl Syndrome
20/40 -2
20/40
SR2842 - Bardet Biedl Syndrome
5/180 sc
5/300 sc
SR52 - Batten Disease
Count Fingers 2'
Hand Motion 3'
SR75 - Batten Disease
20/125 sc
20/200 sc
SR76 - Batten Disease
20/320 sc
20/320 sc
SR2123 - Batten Disease
10/200
10/200
SR2300 - Batten Disease
10/200 sc
10/200 sc
SR2389 - Batten Disease
20/125 sc
20/100 sc
SR497 - Cohen Syndrome
20/60 -2
20/70 -1
SR531 - Cohen Syndrome
20/125
20/200
SR597 - Cohen Syndrome
20/20 -2 sc
20/25 -2
SR647 - Heimler Syndrome
Count Fingers 2'
Count Fingers 2'
SR79 - Joubert Syndrome
20/30 -1
20/60
SR716 - Joubert Syndrome
20/25
20/32
SR443 - LCHAD Associated Retinal Dystrophy
20/600
20/100
SR340 - MCL
20/80
20/40
SR700 - MCL
20/63 -2
20/40
SR818 - MCL
10/225 sc
20/200 sc
SR2600 - MCL
20/50
20/50
SR2705 - Neuropathy, Ataxia and Retinitis Pigmentosa
20/50 -1
20/50 -2
SR83 - Posterior Column Ataxia with Retinitis Pigmentosa
20/200 -1 sc
20/125 -1 sc
SR160 - Posterior Column Ataxia with Retinitis Pigmentosa
20/250 sc
20/200 sc
SR274 - Posterior Column Ataxia with Retinitis Pigmentosa
20/25 +2
20/25 +2
SR389 - Retinitis Pigmentosa with Anemia
20/40 -1
20/32 -2
SR1860 - Retinitis Pigmentosa with Anemia
20/40
20/50
SR2429 - Retinitis Pigmentosa with Ataxia
20/25 -2
20/20 -2
SR2431 - Retinitis Pigmentosa with Ataxia
20/80 -1
20/125 +1
SR3012 - Retinitis Pigmentosa with Cognitive Impairment
20/40
20/40
SR40 - Senior-Loken Syndrome
Light Perception
Light Perception
SR281 - Senior-Loken Syndrome
20/40 -2 sc
20/20 sc
SR562 - Senior-Loken Syndrome
20/70 sc
20/400 sc
SR325 - Spinocerebellar Ataxia 34
20/40 -1
20/63 +1
SR26 - Syndromic Photoreceptor Disease
20/32 -1
20/32 -1
SR85 - Type 1 Usher Syndrome
5/120 sc
Light Perception
SR94 - Type 1 Usher Syndrome
3/120
20/63 +2
SR96 - Type 1 Usher Syndrome
20/25
20/20 -2
SR100 - Type 1 Usher Syndrome
20/80
20/100
SR370 - Type 1 Usher Syndrome
20/32
20/32
SR447 - Type 1 Usher Syndrome
20/50
20/50
SR487 - Type 1 Usher Syndrome
20/25
20/32 -1
SR548 - Type 1 Usher Syndrome
20/25 sc
20/25 +2 sc
SR573 - Type 1 Usher Syndrome
20/32 +1 sc
20/25 -1 sc
SR1829 - Type 1 Usher Syndrome
20/30 +2
20/20 -2
SR55 - Type 2 Usher Syndrome
20/40
20/32 -2
SR428 - Type 2 Usher Syndrome
20/80
20/63 -2
SR527 - Type 2 Usher Syndrome
20/250 sc
No Light Perception
SR566 - Type 2 Usher Syndrome
20/40 -2
20/50
SR643 - Type 2 Usher Syndrome
1/200 sc
1/200 sc
SR1187 - Type 2 Usher Syndrome
20/25 -1
20/40 +1
SR1603 - Type 2 Usher Syndrome
20/20 -1
20/20 -2
SR1651 - Type 2 Usher Syndrome
20/40 +1
20/80 -2
SR1902 - Type 2 Usher Syndrome
20/160 -2
20/63 -1
SR2828 - Type 2 Usher Syndrome
20/63
Hand Motion 1'
SR544 - Type 3 Usher Syndrome
10/160
10/125
SR1930 - Type 3 Usher Syndrome
20/200 +2
10/225
SR1008 - Usher Syndrome
20/80 -1
20/80
SR1028 - Usher Syndrome
20/200 -1
20/200 -2
SR2495 - Usher Syndrome
