|
1
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
3
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
4
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
5
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
8
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001824)
|
Weight loss |
|
|
|
|
42 / 7739
|
|
11
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
12
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
13
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
14
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
15
|
(HPO:0002176)
|
Spinal cord compression |
|
|
|
|
15 / 7739
|
|
16
|
(HPO:0002277)
|
Horner syndrome |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0002653)
|
Bone pain |
|
|
|
|
75 / 7739
|
|
18
|
(HPO:0003005)
|
Ganglioneuroma |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0003006)
|
Neuroblastoma |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
21
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
22
|
(HPO:0006747)
|
Ganglioneuroblastoma |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0010543)
|
Opsoclonus |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0011977)
|
Elevated urinary homovanillic acid |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0011978)
|
Elevated urinary vanillylmandelic acid |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0011979)
|
Elevated urinary dopamine |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0200036)
|
Skin nodule |
|
|
|
|
4 / 7739
|