Symptom Information: Sort according to HPO 

1
(HPO:0010719) Abnormality of hair texture Occasional [Orphanet] 24 / 7739
2
(HPO:0000015) Bladder diverticulum Very frequent [Orphanet] 15 / 7739
3
(HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
4
(HPO:0000387) Absent earlobe 5 / 7739
5
(HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
6
(HPO:0000563) Keratoconus 25 / 7739
7
(HPO:0002758) Osteoarthritis Occasional [Orphanet] 78 / 7739
8
(HPO:0000023) Inguinal hernia 181 / 7739
9
(HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
10
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
(HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
12
(HPO:0001654) Abnormality of the heart valves Very frequent [Orphanet] 49 / 7739
13
(HPO:0100678) Premature skin wrinkling Occasional [Orphanet] 25 / 7739
14
(HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
15
(HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
16
(HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
17
(HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
18
(HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
19
(HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
20
(HPO:0100784) Peripheral arteriovenous fistula Very frequent [Orphanet] 9 / 7739
21
(HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
22
(HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
23
(HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
24
(HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
25
(HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
26
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
27
(HPO:0100026) Arteriovenous malformation Frequent [Orphanet] 38 / 7739
28
(HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
29
(HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
30
(HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
31
(HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
32
(HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
33
(HPO:0005294) Arterial dissection Occasional [Orphanet] 8 / 7739
34
(HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
35
(HPO:0002900) Hypokalemia Very frequent [Orphanet] 45 / 7739
36
(HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
37
(HPO:0001634) Mitral valve prolapse 69 / 7739
38
(HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
39
(HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
40
(HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
41
(HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
42
(HPO:0100550) Tendon rupture Occasional [Orphanet] 17 / 7739
43
(HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
44
(HPO:0003394) Muscle cramps Very frequent [Orphanet] 106 / 7739
45
(HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
46
(HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
47
(HPO:0011029) Internal hemorrhage Very frequent [Orphanet] 4 / 7739
48
(HPO:0002103) Abnormality of the pleura Very frequent [Orphanet] 58 / 7739
49
(HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
50
(HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
51
(HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
52
(HPO:0000790) Hematuria Occasional [Orphanet] 106 / 7739
53
(HPO:0002647) Aortic dissection Very frequent [Orphanet] 14 / 7739
54
(HPO:0100817) Renovascular hypertension Occasional [Orphanet] 9 / 7739
55
(HPO:0001373) Joint dislocation Occasional [Orphanet] 59 / 7739
56
(HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
57
(HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
58
(HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
59
(HPO:0000230) Gingivitis Occasional [Orphanet] 31 / 7739
60
(HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
61
(HPO:0001582) Redundant skin Occasional [Orphanet] 51 / 7739
62
(HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
63
(HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
64
(HPO:0001238) Slender finger Very frequent [Orphanet] 23 / 7739
65
(HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
66
(HPO:0100718) Uterine rupture Occasional [Orphanet] 3 / 7739
67
(HPO:0005244) Gastrointestinal infarctions Very frequent [Orphanet] 14 / 7739
68
(HPO:0100545) Arterial stenosis Occasional [Orphanet] 22 / 7739
69
(HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
70
(HPO:0000446) Narrow nasal bridge Occasional [Orphanet] 29 / 7739
71
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
72
(HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
73
(HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
74
(HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
75
(HPO:0006323) Premature loss of primary teeth Occasional [Orphanet] 18 / 7739
76
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
77
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
78
(HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
79
(HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
80
(HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
81
(HPO:0100645) Cystocele Occasional [Orphanet] 2 / 7739
82
(HPO:0000079) Abnormality of the urinary system 88 / 7739
83
(HPO:0000139) Uterine prolapse 6 / 7739
84
(HPO:0000704) Periodontitis 24 / 7739
85
(HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
86
(HPO:0000993) Molluscoid pseudotumors 8 / 7739
87
(HPO:0001030) Fragile skin 25 / 7739
88
(HPO:0001073) Cigarette-paper scars 7 / 7739
89
(HPO:0001633) Abnormality of the mitral valve Very frequent [Orphanet] 69 / 7739
90
(HPO:0001842) Foot acroosteolysis 4 / 7739
91
(HPO:0002105) Hemoptysis 30 / 7739
92
(HPO:0002108) Spontaneous pneumothorax 3 / 7739
93
(HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
94
(HPO:0002293) Alopecia of scalp 9 / 7739
95
(HPO:0002617) Aneurysm Very frequent [Orphanet] 34 / 7739
96
(HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
97
(HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
98
(HPO:0004944) Cerebral aneurysm 12 / 7739
99
(HPO:0005267) Premature delivery because of cervical insufficiency or membrane fragility 1 / 7739
100
(HPO:0006201) Hypermobility of distal interphalangeal joints 1 / 7739
101
(HPO:0006480) Premature loss of teeth 23 / 7739
102
(HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
103
(HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
104
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
105
(OMIM) Pinched, thin nose 1 / 7739
106
(OMIM) Early loss of teeth 1 / 7739
107
(OMIM) Spontaneous rupture of bowel 1 / 7739
108
(OMIM) Uterine rupture associated with pregnancy 1 / 7739
109
(MedDRA:10048475) Bladder prolapse 2 / 7739
110
(OMIM) Atrophic skin over ears 1 / 7739
111
(OMIM) Prominent venous markings 1 / 7739
112
(OMIM) Absent-mild skin hyperextensibility 1 / 7739
113
(OMIM) Skin changes worse in areas of lower skin temperature 1 / 7739
114
(OMIM) Acrogeria (skin over hands and feet are thin and finely wrinkled) 1 / 7739
115
(OMIM) Type III collagen defect 1 / 7739
116
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
117
(HPO:0100692) Increased corneal curvature Occasional [Orphanet] 13 / 7739
118
(HPO:0012719) Functional abnormality of the gastrointestinal tract Occasional [Orphanet] 17 / 7739
119
(HPO:0012718) Morphological abnormality of the gastrointestinal tract Frequent [Orphanet] 5 / 7739
120
(HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
121
(MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
122
(HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
123
(HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
124
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
125
(HPO:0000153) Abnormality of the mouth Occasional [Orphanet] 60 / 7739
126
(HPO:0000163) Abnormality of the oral cavity Occasional [Orphanet] 37 / 7739
127
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
128
(HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
129
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739