|
1
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
2
|
(HPO:0000997)
|
Axillary freckling |
|
|
|
|
9 / 7739
|
|
3
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
4
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0002665)
|
Lymphoma |
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0002671)
|
Basal cell carcinoma |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0002859)
|
Rhabdomyosarcoma |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0002885)
|
Medulloblastoma |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0002888)
|
Ependymoma |
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0003006)
|
Neuroblastoma |
|
|
|
|
16 / 7739
|
|
12
|
(HPO:0100843)
|
Glioblastoma |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Adenomatous colonic polyps |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
|
15
|
(OMIM)
|
Gray matter heterotopia (in some patients) |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Intracerebral cysts |
|
|
|
|
4 / 7739
|
|
17
|
(MedDRA:10030286)
|
Oligodendroglioma |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0009592)
|
Astrocytoma |
|
|
|
|
15 / 7739
|
|
19
|
(OMIM)
|
Colonic adenocarcinoma |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|