Symptom Information: Sort according to HPO 

1
 (HPO:0000765) Abnormality of the thorax Very frequent [IBIS] 17222357 IBIS 64 / 7739
2
 (HPO:0000539) Abnormality of refraction Frequent [IBIS] 83% (n=35) 23165751 IBIS 6 / 7739
3
 (HPO:0000508) Ptosis Frequent [IBIS] Very frequent [Orphanet] 69% (n=35) 23165751 IBIS 459 / 7739
4
 (HPO:0000978) Bruising susceptibility Frequent [IBIS] 63% (n=35) 23165751 IBIS 123 / 7739
5
 (HPO:0002020) Gastroesophageal reflux Frequent [IBIS] 60% (n=35) 23165751 IBIS 101 / 7739
6
 (HPO:0001642) Pulmonic stenosis Frequent [IBIS] 57% (n=293) 24534818 IBIS 89 / 7739
7
 (HPO:0002650) Scoliosis Frequent [IBIS] Frequent [Orphanet] 54% (n=35] 23165751 IBIS 705 / 7739
8
 (HPO:0002019) Constipation Frequent [IBIS] 51% (n=35) 23165751 IBIS 194 / 7739
9
 (HPO:0001004) Lymphedema Frequent [IBIS] Occasional [Orphanet] 49% (n=35) 23165751 IBIS 62 / 7739
10
 (HPO:0000486) Strabismus Frequent [IBIS] Frequent [Orphanet] 37% (n=35) 23165751 IBIS 576 / 7739
11
 (HPO:0000476) Cystic hygroma Frequent [IBIS] Very frequent [Orphanet] 17222357 IBIS 22 / 7739
12
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] Frequent [IBIS] 17222357 IBIS 231 / 7739
13
 (HPO:0001928) Abnormality of coagulation Frequent [Orphanet] Frequent [IBIS] 17222357 IBIS 44 / 7739
14
 (HPO:0003010) Prolonged bleeding time Frequent [Orphanet] Frequent [IBIS] 17222357 IBIS 88 / 7739
15
 (HPO:0000078) Abnormality of the genital system Frequent [IBIS] Frequent [Orphanet] 17222357 IBIS 33 / 7739
16
 (HPO:0000028) Cryptorchidism Frequent [IBIS] 17222357 IBIS 347 / 7739
17
 (HPO:0002967) Cubitus valgus Frequent [IBIS] 17222357 IBIS 49 / 7739
18
 (HPO:0001508) Failure to thrive Frequent [IBIS] 17222357 IBIS 454 / 7739
19
 (HPO:0006695) Atrioventricular canal defect Frequent [IBIS] 17222357 IBIS 27 / 7739
20
 (HPO:0001633) Abnormality of the mitral valve Frequent [IBIS] 17222357 IBIS 69 / 7739
21
 (HPO:0006677) Prolonged QRS complex Frequent [IBIS] 17222357 IBIS 16 / 7739
22
 (HPO:0011968) Feeding difficulties Frequent [IBIS] 17222357 IBIS 240 / 7739
23
 (HPO:0000823) Delayed puberty Frequent [IBIS] 17222357 IBIS 65 / 7739
24
 (HPO:0002212) Curly hair Frequent [IBIS] 17222357 IBIS 21 / 7739
25
 (HPO:0011298) Prominent digit pad Frequent [IBIS] 17222357 IBIS 1 / 7739
26
 (HPO:0000646) Amblyopia Frequent [IBIS] 17222357 IBIS 42 / 7739
27
 (HPO:0004328) Abnormality of the anterior segment of the globe Frequent [IBIS] 17222357 IBIS 1 / 7739
28
 (HPO:0000365) Hearing impairment Frequent [IBIS] 17222357 IBIS 539 / 7739
29
 (HPO:0000388) Otitis media Frequent [IBIS] 17222357 IBIS 28 / 7739
30
 (HPO:0011675) Arrhythmia Frequent [Orphanet] Occasional [IBIS] 29% (n=35) 23165751 IBIS 226 / 7739
31
 (HPO:0002308) Arnold-Chiari malformation Occasional [IBIS] 20% (n=35) 23165751 IBIS 42 / 7739
32
 (HPO:0001639) Hypertrophic cardiomyopathy Occasional [IBIS] 16% (n=293) 24534818 IBIS 137 / 7739
33
 (HPO:0001629) Ventricular septal defect Occasional [IBIS] 12% (n=293) 24534818 IBIS 316 / 7739
34
 (HPO:0001631) Atria septal defect Occasional [IBIS] 10% (n=118) 8409059 IBIS 274 / 7739
35
 (HPO:0001643) Patent ductus arteriosus Occasional [IBIS] 9% (n=293) 24534818 IBIS 228 / 7739
36
 (HPO:0000407) Sensorineural hearing impairment Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 524 / 7739
37
 (HPO:0000639) Nystagmus Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 555 / 7739
38
 (HPO:0000995) Melanocytic nevus Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 63 / 7739
39
 (HPO:0011390) Morphological abnormality of the inner ear Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 21 / 7739
40
 (HPO:0002943) Thoracic scoliosis Occasional [IBIS] 17222357 IBIS 12 / 7739
41
 (HPO:0011297) Abnormality of digit Occasional [IBIS] 17222357 IBIS 4 / 7739
42
 (HPO:0001762) Talipes equinovarus Occasional [IBIS] 17222357 IBIS 309 / 7739
43
 (HPO:0000079) Abnormality of the urinary system Occasional [IBIS] 17222357 IBIS 88 / 7739
44
 (HPO:0100766) Abnormality of the lymphatic vessels Occasional [IBIS] 17222357 IBIS 1 / 7739
45
 (HPO:0000957) Cafe-au-lait spot Occasional [IBIS] 17222357 IBIS 84 / 7739
46
 (HPO:0008070) Sparse hair Occasional [IBIS] 17222357 IBIS 94 / 7739
47
 (HPO:0001634) Mitral valve prolapse Rare [IBIS] 6% (n=293) 24534818 IBIS 69 / 7739
48
 (HPO:0002616) Aortic root dilatation Rare [IBIS] 6% (n=293) 24534818 IBIS 27 / 7739
49
 (HPO:0001680) Coarctation of aorta Rare [IBIS] 2% (n=293) 24534818 IBIS 57 / 7739
50
 (HPO:0001650) Aortic valve stenosis Rare [IBIS] 2% (n=293) 24534818 IBIS 49 / 7739
51
 (HPO:0001636) Tetralogy of Fallot Rare [IBIS] 2% (n=293) 24534818 IBIS 104 / 7739
52
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] Rare [IBIS] 17222357 IBIS 52 / 7739
53
 (HPO:0005547) Myeloproliferative disorder Rare [IBIS] 17222357 IBIS 7 / 7739
54
 (HPO:0001003) Multiple lentigines Rare [IBIS] 17222357 IBIS 11 / 7739
55
 (HPO:0011392) Abnormality of the vestibular nerve Rare [IBIS] 17222357 IBIS 1 / 7739
56
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 26467218 IBIS 644 / 7739
57
 (HPO:0000325) Triangular face Very frequent [Orphanet] 17222357 IBIS 91 / 7739
58
 (HPO:0000348) High forehead Very frequent [Orphanet] 17222357 IBIS 157 / 7739
59
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 24444506 IBIS 81 / 7739
60
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 17222357 IBIS 40 / 7739
61
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 26467218 IBIS 328 / 7739
62
 (HPO:0000520) Proptosis Very frequent [Orphanet] 21464791 IBIS 192 / 7739
63
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 26467218 IBIS 244 / 7739
64
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 17222357 IBIS 136 / 7739
65
 (HPO:0000917) Superior pectus carinatum 25952229 IBIS 11 / 7739
66
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 15804304 IBIS 990 / 7739
67
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 22907230 IBIS 859 / 7739
68
 (HPO:0001641) Abnormality of the pulmonary valve Very frequent [Orphanet] 24220280 IBIS 27 / 7739
69
 (HPO:0001892) Abnormal bleeding 26467218 IBIS 85 / 7739
70
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 17222357 IBIS 88 / 7739
71
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 20301303 IBIS 308 / 7739
72
 (HPO:0002208) Coarse hair Frequent [Orphanet] 15384080 IBIS 58 / 7739
73
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 9343272 IBIS 250 / 7739
74
 (HPO:0004322) Short stature Very frequent [Orphanet] 26467218 IBIS 1232 / 7739
75
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 17222357 IBIS 54 / 7739
76
 (HPO:0004414) Abnormality of the pulmonary artery Very frequent [Orphanet] 20301303 IBIS 50 / 7739
77
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 17222357 IBIS 72 / 7739
78
 (HPO:0011039) Abnormality of the helix Very frequent [Orphanet] 17222357 IBIS 33 / 7739
79
 (HPO:0011869) Abnormal platelet function Frequent [Orphanet] 17222357 IBIS 12 / 7739
80
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 26467218 IBIS 355 / 7739
81
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 24444506 IBIS 221 / 7739
82
 (HPO:0100763) Abnormality of the lymphatic system Frequent [Orphanet] 17222357 IBIS 18 / 7739
83
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 8465844 IBIS 60 / 7739
84
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 17222357 IBIS 308 / 7739
85
 (HPO:0002015) Dysphagia Frequent [Orphanet] 10373129 IBIS 301 / 7739
86
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 8465844 IBIS 115 / 7739
87
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 24444506 IBIS 328 / 7739
88
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 17222357 IBIS 156 / 7739
89
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 17222357 IBIS 394 / 7739
90
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 17222357 IBIS 296 / 7739
91
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 26467218 IBIS 492 / 7739
92
 (HPO:0000135) Hypogonadism occasional [HPO:skoehler] 20029233 IBIS 89 / 7739
93
 (HPO:0000218) High palate 17222357 IBIS 356 / 7739
94
 (HPO:0000286) Epicanthus 17222357 IBIS 371 / 7739
95
 (HPO:0000347) Micrognathia 17222357 IBIS 426 / 7739
96
 (HPO:0000368) Low-set, posteriorly rotated ears 26467218 IBIS 38 / 7739
97
 (HPO:0000470) Short neck 17222357 IBIS 345 / 7739
98
 (HPO:0000545) Myopia 21815719 IBIS 286 / 7739
99
 (HPO:0000689) Dental malocclusion 24068150 IBIS 114 / 7739
100
 (HPO:0000914) Shield chest 12940461 IBIS 14 / 7739
101
 (HPO:0001156) Brachydactyly syndrome 17222357 IBIS 180 / 7739
102
 (HPO:0001249) Intellectual disability 25% [HPO:probinson] 26467218 IBIS 1089 / 7739
103
 (HPO:0001531) Failure to thrive in infancy 26467218 IBIS 26 / 7739
104
 (HPO:0002751) Kyphoscoliosis 23807040 IBIS 131 / 7739
105
 (HPO:0003251) Male infertility 7915331 IBIS 14 / 7739
106
 (HPO:0004841) Reduced factor XII activity 17222357 IBIS 4 / 7739
107
 (HPO:0004859) Amegakaryocytic thrombocytopenia 26599469 IBIS 3 / 7739
108
 (HPO:0008897) Postnatal growth retardation 26467218 IBIS 113 / 7739
109
 (HPO:0030084) Clinodactyly 17222357 IBIS 90 / 7739
110
 (HPO:0100697) Neurofibrosarcoma 26337637 IBIS 5 / 7739
111
 (HPO:0100769) Synovitis 18925667 IBIS 86 / 7739
112
 (HPO:0000337) Broad forehead 26467218 IBIS 116 / 7739
113
 (HPO:0000391) Thickened helices 17222357 IBIS 8 / 7739
114
 (HPO:0000474) Thickened nuchal skin fold 17222357 IBIS 10 / 7739
115
 (HPO:0000280) Coarse facial features 17222357 IBIS 189 / 7739
116
 (HPO:0002058) Myopathic facies 17222357 IBIS 26 / 7739
117
 (HPO:0001488) Bilateral ptosis 17222357 IBIS 42 / 7739
118
 (HPO:0007687) Unilateral ptosis 17222357 IBIS 4 / 7739
119
 (HPO:0005272) Prominent nasolabial fold 17222357 IBIS 4 / 7739
120
 (HPO:0009890) High anterior hairline 17222357 IBIS 10 / 7739
121
 (HPO:0100678) Premature skin wrinkling 17222357 IBIS 25 / 7739
122
 (HPO:0011994) Abnormality of the atrial septum 17222357 IBIS 1 / 7739
123
 (OMIM) Left axis deviation 17222357 IBIS 7 / 7739
124
 (MedDRA:10051177) Electrocardiogram Q wave abnormal 17222357 IBIS 6 / 7739
125
 (HPO:0003691) Scapular winging 17222357 IBIS 51 / 7739
126
 (HPO:0011969) Elevated luteinizing hormone 17222357 IBIS 6 / 7739
127
 (HPO:0008232) Elevated follicle stimulating hormone 17222357 IBIS 8 / 7739
128
 (HPO:0000126) Hydronephrosis 17222357 IBIS 119 / 7739
129
 (HPO:0003125) Reduced factor VIII activity 17222357 IBIS 13 / 7739
130
 (HPO:0001929) Reduced factor XI activity 17222357 IBIS 7 / 7739
131
 (HPO:0001873) Thrombocytopenia 17222357 IBIS 224 / 7739
132
 (HPO:0003759) Hypoplasia of lymphatic vessels 17222357 IBIS 4 / 7739
133
 (HPO:0045006) Aplasia of lymphatic vessels 17222357 IBIS 1 / 7739
134
 (HPO:0002593) Intestinal lymphangiectasia 17222357 IBIS 6 / 7739
135
 (HPO:0006521) Pulmonary lymphangiectasia 17222357 IBIS 6 / 7739
136
 (HPO:0010310) Chylothorax 17222357 IBIS 6 / 7739
137
 (HPO:0040180) Hyperkeratosis pilaris 17222357 IBIS 3 / 7739
138
 (HPO:0001212) Prominent fingertip pads 17222357 IBIS 12 / 7739
139
 (HPO:0001433) Hepatosplenomegaly 17222357 IBIS 78 / 7739
140
 (HPO:0002488) Acute leukemia 17222357 IBIS 29 / 7739
141
 (HPO:0001653) Mitral regurgitation 24068150 IBIS 64 / 7739
142
 (HPO:0004415) Pulmonary artery stenosis 20301303 IBIS 25 / 7739
143
 (HPO:0001561) Polyhydramnios 17222357 IBIS 191 / 7739
144
 (HPO:0002202) Pleural effusion 17222357 IBIS 22 / 7739
145
 (HPO:0001510) Growth delay 26467218 IBIS 295 / 7739
146
 (HPO:0001999) Abnormal facial shape 17222357 IBIS 169 / 7739
147
 (HPO:0006721) Acute lymphoblastic leukemia 26855057 IBIS 7 / 7739