|
1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000873)
|
Diabetes insipidus |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0000988)
|
Skin rash |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
9
|
(HPO:0001012)
|
Multiple lipomas |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
12
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
14
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
|
16
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
17
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
18
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
19
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0002206)
|
Pulmonary fibrosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
21
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
22
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
23
|
(HPO:0002754)
|
Osteomyelitis |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
24
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
25
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
26
|
(HPO:0010885)
|
Aseptic necrosis |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
27
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
|
28
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
29
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
30
|
(HPO:0011277)
|
Abnormality of the urinary system physiology |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
32
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
33
|
([DEL]MedDRA:10011224)
|
Cough |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
34
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
35
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
36
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
37
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
38
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
39
|
(HPO:0011037)
|
Decreased urine output |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
40
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|