Symptom Information: Sort according to HPO 

1
 (HPO:0002036) Hiatus hernia 24 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0000015) Bladder diverticulum Occasional [Orphanet] 15 / 7739
4
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
5
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
6
 (HPO:0100240) Synostosis of joints Frequent [Orphanet] 11 / 7739
7
 (HPO:0002992) Abnormality of the tibia Occasional [Orphanet] 51 / 7739
8
 (HPO:0003063) Abnormality of the humerus Occasional [Orphanet] 36 / 7739
9
 (HPO:0005792) Short humerus 34 / 7739
10
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
11
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
12
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
13
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
14
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
15
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
16
 (HPO:0002045) Hypothermia Frequent [Orphanet] 27 / 7739
17
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
18
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
19
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
20
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] 56 / 7739
21
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
22
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
23
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
24
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
25
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
26
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
27
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
28
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
29
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
30
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
31
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
32
 (HPO:0000218) High palate 356 / 7739
33
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
34
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
35
 (HPO:0002673) Coxa valga 57 / 7739
36
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
37
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
38
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
39
 (HPO:0000939) Osteoporosis 129 / 7739
40
 (HPO:0002991) Abnormality of the fibula Occasional [Orphanet] 49 / 7739
41
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
42
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
43
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
44
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
45
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
46
 (HPO:0001388) Joint laxity 117 / 7739
47
 (HPO:0000126) Hydronephrosis 119 / 7739
48
 (HPO:0000275) Narrow face 76 / 7739
49
 (HPO:0000276) Long face 109 / 7739
50
 (HPO:0000444) Convex nasal ridge 87 / 7739
51
 (HPO:0000472) Long neck 8 / 7739
52
 (HPO:0000885) Broad ribs 21 / 7739
53
 (HPO:0000894) Short clavicles 30 / 7739
54
 (HPO:0000916) Broad clavicles 6 / 7739
55
 (HPO:0000977) Soft skin 23 / 7739
56
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
57
 (HPO:0001241) Capitate-hamate fusion 6 / 7739
58
 (HPO:0001278) Orthostatic hypotension 24 / 7739
59
 (HPO:0001377) Limited elbow extension 38 / 7739
60
 (HPO:0001582) Redundant skin 51 / 7739
61
 (HPO:0002028) Chronic diarrhea 51 / 7739
62
 (HPO:0002617) Aneurysm Frequent [Orphanet] 34 / 7739
63
 (HPO:0002862) Bladder carcinoma 2 / 7739
64
 (HPO:0003066) Limited knee extension 4 / 7739
65
 (HPO:0003276) Pelvic bone exostoses 4 / 7739
66
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
67
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
68
 (HPO:0004474) Persistent open anterior fontanelle 4 / 7739
69
 (HPO:0005302) Carotid artery tortuosity 1 / 7739
70
 (HPO:0006000) Ureteral obstruction 3 / 7739
71
 (OMIM) Long, thin face 3 / 7739
72
 (OMIM) Elongated, tortuous carotid arteries 1 / 7739
73
 (OMIM) Intracranial arterial narrowing 1 / 7739
74
 (OMIM) Short, broad clavicles 1 / 7739
75
 (OMIM) Short, broad ribs 1 / 7739
76
 (OMIM) Bladder rupture 1 / 7739
77
 (OMIM) Occipital horn exostoses 1 / 7739
78
 (OMIM) Mild platyspondyly 14 / 7739
79
 (OMIM) Mildly extensible skin 1 / 7739
80
 (OMIM) Low-normal IQ 1 / 7739
81
 (OMIM) Decreased serum copper 2 / 7739
82
 (MedDRA:10008217) Ceruloplasmin decreased 1 / 7739
83
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
84
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
85
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
86
 (HPO:0001419) X-linked recessive inheritance 189 / 7739