|
1
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
5
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
10
|
(HPO:0001519)
|
Disproportionate tall stature |
|
|
|
|
39 / 7739
|
|
11
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
13
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
14
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
15
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0002253)
|
Colonic diverticula |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0002666)
|
Pheochromocytoma |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
20
|
(HPO:0002865)
|
Medullary thyroid carcinoma |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0003005)
|
Ganglioneuroma |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
23
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
24
|
(HPO:0003528)
|
Elevated calcitonin |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0003639)
|
Elevated urinary epinephrine |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0005994)
|
Nodular goiter |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0006461)
|
Proximal femoral epiphysiolysis |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0008208)
|
Parathyroid hyperplasia |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Coarse-appearing facies |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Pedunculated nodules on eyelid margins |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Eyelid and corneal neuromas |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Medullated corneal nerve fibers |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Thickened, anteverted eyelid |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Large, prominent eyebrow |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Neuromas of lips and tongue |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
37
|
(OMIM)
|
Flushing attacks |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
39
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
40
|
(OMIM)
|
Parathyroid disease rare |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Pentagastrin stimulation test |
|
|
|
|
2 / 7739
|
|
42
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|