1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
3
|
(HPO:0009733)
|
Glioma |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
4
|
(HPO:0100843)
|
Glioblastoma |
|
|
|
|
3 / 7739
|
5
|
(HPO:0000738)
|
Hallucinations |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
7
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
8
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
9
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
10
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
11
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Very frequent [Orphanet]
|
|
|
|
97 / 7739
|
12
|
(HPO:0100835)
|
Benign neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
13
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
14
|
(HPO:0010784)
|
Uterine neoplasm |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
15
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
16
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
17
|
(HPO:0002354)
|
Memory impairment |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
18
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
19
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
20
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
21
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
22
|
(HPO:0100273)
|
Neoplasm of the colon |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
23
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
24
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
25
|
(HPO:0100743)
|
Neoplasm of the rectum |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
26
|
(HPO:0002516)
|
Increased intracranial pressure |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
27
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
28
|
(HPO:0200008)
|
Intestinal polyposis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
29
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
30
|
(HPO:0100576)
|
Amaurosis fugax |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
31
|
(HPO:0002896)
|
Neoplasm of the liver |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
32
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
33
|
(HPO:0002894)
|
Neoplasm of the pancreas |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
34
|
(HPO:0003006)
|
Neuroblastoma |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
35
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
36
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
37
|
(HPO:0000997)
|
Axillary freckling |
|
|
|
|
9 / 7739
|
38
|
(HPO:0001123)
|
Visual field defect |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
39
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
40
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
41
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
42
|
(HPO:0002665)
|
Lymphoma |
|
|
|
|
60 / 7739
|
43
|
(HPO:0002671)
|
Basal cell carcinoma |
|
|
|
|
18 / 7739
|
44
|
(HPO:0002859)
|
Rhabdomyosarcoma |
|
|
|
|
10 / 7739
|
45
|
(HPO:0002885)
|
Medulloblastoma |
|
|
|
|
20 / 7739
|
46
|
(HPO:0002888)
|
Ependymoma |
|
|
|
|
10 / 7739
|
47
|
(HPO:0010524)
|
Agnosia |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
48
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
49
|
(HPO:0010786)
|
Urinary tract neoplasm |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
50
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
51
|
(OMIM)
|
Adenomatous colonic polyps |
|
|
|
|
2 / 7739
|
52
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
53
|
(OMIM)
|
Gray matter heterotopia (in some patients) |
|
|
|
|
2 / 7739
|
54
|
(OMIM)
|
Intracerebral cysts |
|
|
|
|
4 / 7739
|
55
|
(MedDRA:10030286)
|
Oligodendroglioma |
|
|
|
|
5 / 7739
|
56
|
(HPO:0009592)
|
Astrocytoma |
|
|
|
|
15 / 7739
|
57
|
(OMIM)
|
Colonic adenocarcinoma |
|
|
|
|
2 / 7739
|
58
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
59
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
60
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
61
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
62
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
63
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
64
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
65
|
(HPO:0011750)
|
Neoplasm of the anterior pituitary |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
66
|
(HPO:0012719)
|
Functional abnormality of the gastrointestinal tract |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
67
|
(HPO:0100613)
|
Death in early adulthood |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
68
|
(HPO:0030448)
|
Soft tissue sarcoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|