|
1
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0000112)
|
Nephropathy |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
3
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
4
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0000093)
|
Proteinuria |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0000794)
|
IgA deposition in the glomerulus |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
14
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
15
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
|
16
|
(OMIM)
|
Progressive nephropathy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Variable spastic paraplegia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy on renal biopsy |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
20
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
|
|
37 / 7739
|