|
1
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000826)
|
Precocious puberty |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0000836)
|
Hyperthyroidism |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0000843)
|
Hyperparathyroidism |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0000845)
|
Growth hormone excess |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0000870)
|
Prolactin excess |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0001578)
|
Hypercortisolism |
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0002893)
|
Pituitary adenoma |
|
|
|
|
16 / 7739
|
|
12
|
(HPO:0004493)
|
Craniofacial hyperostosis |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0005605)
|
Large cafe-au-lait macules with irregular margins |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0010735)
|
Polyostotic fibrous dysplasia |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0200008)
|
Intestinal polyposis |
|
|
|
|
23 / 7739
|
|
16
|
(OMIM)
|
Cranial foramen impingement |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Large cafe au lait spots with irregular margins |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0001442)
|
Somatic mosaicism |
|
|
|
|
7 / 7739
|
|
19
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|