1
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
2
|
(HPO:0000787)
|
Nephrolithiasis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
3
|
(HPO:0000819)
|
Diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
4
|
(HPO:0000843)
|
Hyperparathyroidism |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
5
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
6
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
7
|
(HPO:0000980)
|
Pallor |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
8
|
(HPO:0000988)
|
Skin rash |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
9
|
(HPO:0000989)
|
Pruritus |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
10
|
(HPO:0001012)
|
Multiple lipomas |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
11
|
(HPO:0001131)
|
Corneal dystrophy |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
13
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
14
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
16
|
(HPO:0001519)
|
Disproportionate tall stature |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
17
|
(HPO:0001761)
|
Pes cavus |
Occasional [Orphanet]
|
|
|
|
225 / 7739
|
18
|
(HPO:0001944)
|
Dehydration |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
19
|
(HPO:0002014)
|
Diarrhea |
Very frequent [Orphanet]
|
|
|
|
225 / 7739
|
20
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
21
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
22
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
23
|
(HPO:0002039)
|
Anorexia |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
24
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
25
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
26
|
(HPO:0002653)
|
Bone pain |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
27
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
28
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
29
|
(HPO:0003072)
|
Hypercalcemia |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
30
|
(HPO:0003100)
|
Slender long bone |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
31
|
(HPO:0003198)
|
Myopathy |
Frequent [Orphanet]
|
|
|
|
151 / 7739
|
32
|
(HPO:0003307)
|
Hyperlordosis |
Occasional [Orphanet]
|
|
|
|
122 / 7739
|
33
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
34
|
(HPO:0005214)
|
Intestinal obstruction |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
35
|
(HPO:0010741)
|
Edema of the lower limbs |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
36
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
37
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
38
|
(HPO:0100631)
|
Neoplasm of the adrenal gland |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
39
|
(HPO:0100634)
|
Neuroendocrine neoplasm |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
40
|
(HPO:0100735)
|
Hypertensive crisis |
Frequent [Orphanet]
|
|
|
|
9 / 7739
|
41
|
(HPO:0100835)
|
Benign neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
42
|
(HPO:0200008)
|
Intestinal polyposis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
43
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
44
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
45
|
(HPO:0007378)
|
Neoplasm of the gastrointestinal tract |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
46
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
47
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
48
|
(HPO:0008221)
|
Adrenal hyperplasia |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
49
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
50
|
(HPO:0003045)
|
Abnormality of the patella |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
51
|
(HPO:0000098)
|
Tall stature |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
52
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
53
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
54
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
55
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
56
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
57
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
58
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
59
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
60
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
61
|
(HPO:0011037)
|
Decreased urine output |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
62
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
63
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
64
|
(HPO:0002865)
|
Medullary thyroid carcinoma |
|
|
|
|
4 / 7739
|