|
1
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000169)
|
Gingival fibromatosis |
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0000826)
|
Precocious puberty |
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
30 % [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
9
|
(HPO:0001482)
|
Subcutaneous nodule |
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
12
|
(HPO:0002888)
|
Ependymoma |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0005584)
|
Renal cell carcinoma |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0006772)
|
Renal angiomyolipoma |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0009592)
|
Astrocytoma |
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0009716)
|
Subependymal nodules |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0009717)
|
Cortical tubers |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0009720)
|
Adenoma sebaceum |
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0009721)
|
Shagreen patch |
|
|
|
|
11 / 7739
|
|
21
|
(HPO:0009724)
|
Subungual fibromas |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0009727)
|
Achromatic retinal patches |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0009729)
|
Cardiac rhabdomyoma |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0009734)
|
Optic glioma |
|
|
|
|
7 / 7739
|
|
25
|
(HPO:0010762)
|
Chordoma |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0012469)
|
Infantile spasms |
|
|
|
|
18 / 7739
|
|
27
|
(OMIM)
|
Retinal astrocytoma |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0009722)
|
Dental enamel pits |
|
|
|
|
5 / 7739
|
|
29
|
(OMIM)
|
Wolf-Parkinson-White syndrome |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Lymphangiomyomatosis, rare |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Tumors of the kidney (may progress to malignancy in less than 2%) |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Cystic areas of bone rarefaction, esp. phalanges |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
White ash leaf-shaped macules |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Hamartomatous lesions of the brain |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
36
|
(OMIM)
|
Intracranial calcification by x-ray or CT |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
38
|
(OMIM)
|
Myocardial rhabdomyoma |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Multiple bilateral renal angiomyolipoma |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Giant cell astrocytoma |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Benign tumors of the eye, heart, and lungs |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Increased frequency of premature centromere disjunction (PCD) in cultured fibroblasts, esp. chromosome 3 |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
45
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|