|
1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000588)
|
Optic nerve coloboma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000076)
|
Vesicoureteral reflux |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0000003)
|
Multicystic kidney dysplasia |
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0000083)
|
Renal insufficiency |
Very frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
14
|
(HPO:0000480)
|
Retinal coloboma |
|
|
|
|
16 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0000085)
|
Horseshoe kidney |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
18
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
19
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
20
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
21
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0000533)
|
Chorioretinal atrophy |
|
|
|
|
24 / 7739
|
|
23
|
(HPO:0000541)
|
Retinal detachment |
rare [HPO:skoehler]
|
|
|
|
87 / 7739
|
|
24
|
(HPO:0007899)
|
Retinal nonattachment |
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
26
|
(HPO:0000608)
|
Macular degeneration |
rare [HPO:skoehler]
|
|
|
|
36 / 7739
|
|
27
|
(HPO:0000787)
|
Nephrolithiasis |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
28
|
(HPO:0000969)
|
Edema |
rare [HPO:skoehler]
|
|
|
|
117 / 7739
|
|
29
|
(HPO:0001144)
|
Orbital cyst |
|
|
|
|
4 / 7739
|
|
30
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
31
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
32
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
33
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
Common [HPO:probinson]
|
|
|
|
78 / 7739
|
|
34
|
(HPO:0004712)
|
Renal malrotation |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
35
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
|
|
|
|
18 / 7739
|
|
36
|
(HPO:0011509)
|
Macular hyperpigmentation |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0012019)
|
Lens luxation |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Optic disc dysplasia |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Excavation of optic disc (pits) |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Optic disc hyperplasia |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Morning glory optic disc |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Hypoplastic optic disc |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Gliosis of optic nerve |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Absent optic nerve head |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Abnormal retinal pigment epithelium |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Abnormal retinal vessels |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Retinal staphyloma (rare) |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Retinal edema (rare) |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Papillomacular detachment (rare) |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Hyperpigmentation of the macula (rare) |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Cystic degeneration of the macula (rare) |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Posterior lens luxation (rare) |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
54
|
(OMIM)
|
Anomalous renal pelvis (rare) |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Pyeloureteral duplication (in some patients) |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
57
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
58
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
59
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
60
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
61
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
|
62
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
63
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
64
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|