|
1
|
(HPO:0009733)
|
Glioma |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
|
2
|
(HPO:0002141)
|
Gait imbalance |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
|
|
297 / 7739
|
|
4
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
43.0000 % [HPO]
|
|
|
|
84 / 7739
|
|
5
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
7.5000 % [HPO]
|
|
|
|
175 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
8.0000 % [HPO]
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
8
|
(HPO:0100835)
|
Benign neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0002858)
|
Meningioma |
Occasional [Orphanet]
45.0000 % [HPO]
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0000360)
|
Tinnitus |
Very frequent [Orphanet]
10.0000 % [HPO]
|
|
|
|
29 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0008069)
|
Neoplasm of the skin |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
13
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
15
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
16
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
|
17
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
18
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
19
|
(HPO:0000365)
|
Hearing impairment |
35.0000 % [HPO]
|
|
|
|
539 / 7739
|
|
20
|
(HPO:0002888)
|
Ependymoma |
2.5000 % [HPO]
|
|
|
|
10 / 7739
|
|
21
|
(HPO:0007876)
|
Juvenile cortical cataract |
41.0000 % [HPO]
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0007935)
|
Juvenile posterior subcapsular lenticular opacities |
72.0000 % [HPO]
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
24
|
(HPO:0009589)
|
Bilateral vestibular Schwannoma |
85.0000 % [HPO]
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0009590)
|
Unilateral vestibular Schwannoma |
6.0000 % [HPO]
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0009592)
|
Astrocytoma |
4.0000 % [HPO]
|
|
|
|
15 / 7739
|
|
27
|
(HPO:0009593)
|
Peripheral Schwannoma |
68.0000 % [HPO]
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0009594)
|
Retinal hamartoma |
9.0000 % [HPO]
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0009595)
|
Occasional neurofibromas |
Rare [HPO]
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
31
|
(HPO:0100014)
|
Epiretinal membrane |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
No Lisch nodules |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Occasional cafe-au-lait spots |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0100008)
|
Schwannoma |
|
|
|
|
6 / 7739
|
|
35
|
(HPO:0009588)
|
Vestibular Schwannoma |
|
|
|
|
3 / 7739
|
|
36
|
(HPO:0001067)
|
Neurofibromas |
|
|
|
|
7 / 7739
|
|
37
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
38
|
(HPO:0010614)
|
Fibroma |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
39
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
40
|
(HPO:0003474)
|
Sensory impairment |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
41
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
42
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|