|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
0.7000 % [HPO]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0000957)
|
Cafe-au-lait spot |
100.0000 % [HPO]
|
|
|
|
84 / 7739
|
|
7
|
(HPO:0000997)
|
Axillary freckling |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
4.0000 % [HPO]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0001328)
|
Specific learning disability |
30.0000 % [HPO]
|
|
|
|
114 / 7739
|
|
11
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0001920)
|
Renal artery stenosis |
1.5000 % [HPO]
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0002410)
|
Aqueductal stenosis |
1.5000 % [HPO]
|
|
|
|
19 / 7739
|
|
14
|
(HPO:0002414)
|
Spina bifida |
|
|
|
|
47 / 7739
|
|
15
|
(HPO:0002521)
|
Hypsarrhythmia |
1.5000 % [HPO]
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
5.0000 % [HPO]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002666)
|
Pheochromocytoma |
1.0000 % [HPO]
|
|
|
|
9 / 7739
|
|
18
|
(HPO:0002857)
|
Genu valgum |
1.5000 % [HPO]
|
|
|
|
144 / 7739
|
|
19
|
(HPO:0002858)
|
Meningioma |
1.0000 % [HPO]
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0002859)
|
Rhabdomyosarcoma |
|
|
|
|
10 / 7739
|
|
21
|
(HPO:0002897)
|
Parathyroid adenoma |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
31.0000 % [HPO]
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0009592)
|
Astrocytoma |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0009732)
|
Plexiform neurofibroma |
30.0000 % [HPO]
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0009734)
|
Optic glioma |
1.5000 % [HPO]
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0009735)
|
Spinal neurofibromas |
1.5000 % [HPO]
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0009736)
|
Tibial pseudoarthrosis |
4.0000 % [HPO]
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0009737)
|
Lisch nodules |
95.0000 % [HPO]
|
|
|
|
10 / 7739
|
|
29
|
(HPO:0100697)
|
Neurofibrosarcoma |
|
|
|
|
5 / 7739
|
|
30
|
(OMIM)
|
Sphenoid dysplasia |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0005864)
|
Pseudoarthrosis |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Thinning of long bone cortex |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Local bony overgrowth |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0001067)
|
Neurofibromas |
|
|
|
|
7 / 7739
|
|
35
|
(OMIM)
|
Inguinal freckling |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Mental retardation, 30% learning disabilities, 10% mild mental retardation |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Hypothalamic tumor |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Duodenal carcinoid |
|
|
|
|
1 / 7739
|
|
39
|
(MedDRA:10041329)
|
Somatostatinoma |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Pilocytic astrocytoma |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Tumors at multiple other sites including CNS |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
43
|
(HPO:0030052)
|
Inguinal freckling |
|
|
|
|
3 / 7739
|