1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
2
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
3
|
(HPO:0000230)
|
Gingivitis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
4
|
(HPO:0000269)
|
Prominent occiput |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
5
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
6
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
7
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
8
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
9
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
10
|
(HPO:0000957)
|
Cafe-au-lait spot |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
11
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
13
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
15
|
(HPO:0002097)
|
Emphysema |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
16
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
17
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
18
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
19
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
20
|
(HPO:0002617)
|
Aneurysm |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
21
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
22
|
(HPO:0009594)
|
Retinal hamartoma |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
23
|
(HPO:0009720)
|
Adenoma sebaceum |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
24
|
(HPO:0009726)
|
Renal neoplasm |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
25
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
26
|
(HPO:0100544)
|
Neoplasm of the heart |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
27
|
(HPO:0100746)
|
Macrodactyly of finger |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
28
|
(HPO:0100761)
|
Visceral angiomatosis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
29
|
(HPO:0100764)
|
Lymphangioma |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
30
|
(HPO:0100804)
|
Ungual fibroma |
Frequent [Orphanet]
|
|
|
|
2 / 7739
|
31
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
32
|
(HPO:0001052)
|
Nevus flammeus |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
33
|
(HPO:0001080)
|
Biliary tract abnormality |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
34
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
35
|
(HPO:0010609)
|
Skin tags |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
36
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
37
|
(HPO:0010614)
|
Fibroma |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
39
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
40
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
41
|
(MedDRA:10025421)
|
Macule |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
42
|
(HPO:0012252)
|
Abnormal respiratory system morphology |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
44
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
45
|
(HPO:0000169)
|
Gingival fibromatosis |
|
|
|
|
14 / 7739
|
46
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
47
|
(HPO:0001249)
|
Intellectual disability |
30 % [HPO:skoehler]
|
|
|
|
1089 / 7739
|
48
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
49
|
(HPO:0001482)
|
Subcutaneous nodule |
|
|
|
|
17 / 7739
|
50
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
|
|
|
|
21 / 7739
|
51
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
52
|
(HPO:0002888)
|
Ependymoma |
|
|
|
|
10 / 7739
|
53
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
54
|
(HPO:0005584)
|
Renal cell carcinoma |
|
|
|
|
13 / 7739
|
55
|
(HPO:0006772)
|
Renal angiomyolipoma |
|
|
|
|
4 / 7739
|
56
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
57
|
(HPO:0009554)
|
Projection of scalp hair onto lateral cheek |
|
|
|
|
2 / 7739
|
58
|
(HPO:0009592)
|
Astrocytoma |
|
|
|
|
15 / 7739
|
59
|
(HPO:0009716)
|
Subependymal nodules |
|
|
|
|
3 / 7739
|
60
|
(HPO:0009717)
|
Cortical tubers |
|
|
|
|
4 / 7739
|
61
|
(HPO:0009719)
|
Hypomelanotic macule |
|
|
|
|
4 / 7739
|
62
|
(HPO:0009721)
|
Shagreen patch |
|
|
|
|
11 / 7739
|
63
|
(HPO:0009722)
|
Dental enamel pits |
|
|
|
|
5 / 7739
|
64
|
(HPO:0009724)
|
Subungual fibromas |
|
|
|
|
3 / 7739
|
65
|
(HPO:0009727)
|
Achromatic retinal patches |
|
|
|
|
3 / 7739
|
66
|
(HPO:0009729)
|
Cardiac rhabdomyoma |
|
|
|
|
5 / 7739
|
67
|
(HPO:0009734)
|
Optic glioma |
|
|
|
|
7 / 7739
|
68
|
(HPO:0010762)
|
Chordoma |
|
|
|
|
4 / 7739
|
69
|
(HPO:0012469)
|
Infantile spasms |
|
|
|
|
18 / 7739
|
70
|
(HPO:0200024)
|
Premature chromatid separation |
|
|
|
|
3 / 7739
|