|
1
|
(HPO:0000093)
|
Proteinuria |
Occasional [Orphanet]
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0000657)
|
Oculomotor apraxia |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0001107)
|
Ocular albinism |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
10
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
11
|
(HPO:0001541)
|
Ascites |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
12
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
13
|
(HPO:0001760)
|
Abnormality of the foot |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0001789)
|
Hydrops fetalis |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
15
|
(HPO:0001999)
|
Abnormal facial shape |
Frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
17
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
20
|
(HPO:0002652)
|
Skeletal dysplasia |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
21
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
22
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
23
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
24
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
25
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
27
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
28
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
29
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|