Search results for pdzd7

Showing 25 of 68 hits for pdzd7
# Family MCID Name MIFTS Score
1
c USH020 Usher Syndrome, Type Iic 48 53.579
2
c DFN364 Deafness, Autosomal Recessive 57 36 43.679
3
c USH037 Usher Syndrome, Type Iia 55 33.869
4
c USH035 Usher Syndrome Type 2 53 24.787
5
P USH001 Usher Syndrome 62 18.681
6
P RTN008 Retinitis Pigmentosa 80 12.583
7
c USH036 Usher Syndrome, Type I 63 11.792
8
c USH038 Usher Syndrome, Type Iiia 53 10.685
9
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 53 10.392
10
P SNS001 Sensorineural Hearing Loss 59 9.452
11
c DFN170 Deafness, Autosomal Recessive 31 38 9.088
12
P CNR004 Cone-Rod Dystrophy 2 78 7.642
13
c DFN250 Deafness, Autosomal Recessive 2 48 7.518
14
c DFN141 Deafness, Autosomal Recessive 12 47 7.518
15
c DFN251 Deafness, Autosomal Dominant 11 46 7.518
16
LBR032 Leber Congenital Amaurosis with Early-Onset Deafness 31 7.348
17
PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 44 7.348
18
LBR036 Leber Plus Disease 70 7.348
19
c ATS005 Autosomal Dominant Nonsyndromic Deafness 27 7.348
20
c ATS006 Autosomal Recessive Nonsyndromic Deafness 37 7.348
21
ADT003 Auditory System Disease 43 7.348
22
FND002 Fundus Dystrophy 55 7.348
23
RRG078 Rare Genetic Deafness 37 3.427
24
c USH039 Usher Syndrome, Type Ic 48 2.535
25
c USH021 Usher Syndrome, Type Iid 44 2.208
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