|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
7
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
10
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0001099)
|
Fundus atrophy |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001483)
|
Eye poking |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
15
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
16
|
(HPO:0003296)
|
Hyperthreoninuria |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0003354)
|
Hyperthreoninemia |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
19
|
(OMIM)
|
Central vision loss |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|