1
|
(HPO:0000098)
|
Tall stature |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
2
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
3
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
4
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
5
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
6
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
|
|
297 / 7739
|
7
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
8
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
9
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
10
|
(HPO:0000957)
|
Cafe-au-lait spot |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
11
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
12
|
(HPO:0001012)
|
Multiple lipomas |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
13
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
14
|
(HPO:0001100)
|
Heterochromia iridis |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0001909)
|
Leukemia |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
18
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
19
|
(HPO:0002354)
|
Memory impairment |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
20
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
21
|
(HPO:0002652)
|
Skeletal dysplasia |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
22
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
23
|
(HPO:0003100)
|
Slender long bone |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
25
|
(HPO:0007378)
|
Neoplasm of the gastrointestinal tract |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
26
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
27
|
(HPO:0008069)
|
Neoplasm of the skin |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
28
|
(HPO:0009737)
|
Lisch nodules |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
29
|
(HPO:0010786)
|
Urinary tract neoplasm |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
30
|
(HPO:0100545)
|
Arterial stenosis |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
31
|
(HPO:0100634)
|
Neuroendocrine neoplasm |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
32
|
(HPO:0100835)
|
Benign neoplasm of the central nervous system |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
33
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
34
|
(HPO:0000818)
|
Abnormality of the endocrine system |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
35
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
36
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
37
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
38
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
39
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
40
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
41
|
(HPO:0007587)
|
Numerous pigmented freckles |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
42
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
43
|
(HPO:0010614)
|
Fibroma |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
44
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
45
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
46
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
47
|
(HPO:0012252)
|
Abnormal respiratory system morphology |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
49
|
(HPO:0030448)
|
Soft tissue sarcoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|