Symptom Information: Sort according to HPO 

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