Symptom Information: Sort according to HPO 

1
 (HPO:0004378) Abnormality of the anus Very frequent [Orphanet] 34 / 7739
2
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
3
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
4
 (HPO:0011304) Broad thumb 39 / 7739
5
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
6
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
7
 (HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
8
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0010760) Absent toe Occasional [Orphanet] 15 / 7739
12
 (HPO:0000048) Bifid scrotum Occasional [Orphanet] 36 / 7739
13
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
14
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 7.5000 % [HPO] 94 / 7739
15
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
16
 (HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
17
 (HPO:0001140) Epibulbar dermoid Occasional [Orphanet] 11 / 7739
18
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 7.5000 % [HPO] 232 / 7739
19
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
20
 (HPO:0009912) Abnormality of the tragus Occasional [Orphanet] 12 / 7739
21
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
22
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
23
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
24
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
25
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
26
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
27
 (HPO:0002607) Bowel incontinence Occasional [Orphanet] 33 / 7739
28
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
29
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 50.0000 % [HPO] 56 / 7739
30
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
31
 (HPO:0000143) Rectovaginal fistula 18 / 7739
32
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 46.9697 % [HPO] 135 / 7739
33
 (HPO:0004792) Rectoperineal fistula 3 / 7739
34
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
35
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
36
 (HPO:0000028) Cryptorchidism 347 / 7739
37
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
38
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
39
 (HPO:0001177) Preaxial hand polydactyly Very frequent [Orphanet] 59 / 7739
40
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
41
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
42
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
43
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
44
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
45
 (HPO:0008551) Microtia 50.0000 % [HPO] 98 / 7739
46
 (HPO:0100559) Lower limb asymmetry Occasional [Orphanet] 30 / 7739
47
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
48
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
49
 (HPO:0009465) Ulnar deviation of finger Occasional [Orphanet] 48 / 7739
50
 (HPO:0000384) Preauricular skin tag Very frequent [Orphanet] 50.0000 % [HPO] 62 / 7739
51
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
52
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
53
 (HPO:0010481) Urethral valve 7 / 7739
54
 (HPO:0010957) Congenital posterior urethral valve 9 / 7739
55
 (HPO:0001249) Intellectual disability 1089 / 7739
56
 (HPO:0000480) Retinal coloboma 16 / 7739
57
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
58
 (HPO:0000611) Choroid coloboma 12 / 7739
59
 (HPO:0000142) Abnormality of the vagina Occasional [Orphanet] 24 / 7739
60
 (HPO:0000003) Multicystic kidney dysplasia 7.5000 % [HPO] 17 / 7739
61
 (HPO:0000110) Renal dysplasia 7.5000 % [HPO] 44 / 7739
62
 (HPO:0000089) Renal hypoplasia 7.5000 % [HPO] 78 / 7739
63
 (HPO:0000136) Bifid uterus 6 / 7739
64
 (HPO:0000252) Microcephaly 832 / 7739
65
 (HPO:0000400) Macrotia 108 / 7739
66
 (HPO:0000407) Sensorineural hearing impairment 50.0000 % [HPO] 524 / 7739
67
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
68
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
69
 (HPO:0001440) Metatarsal synostosis 4 / 7739
70
 (HPO:0001537) Umbilical hernia 206 / 7739
71
 (HPO:0001629) Ventricular septal defect 316 / 7739
72
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
73
 (HPO:0001864) Clinodactyly of the 5th toe 50.0000 % [HPO] 6 / 7739
74
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
75
 (HPO:0002025) Anal stenosis 23 / 7739
76
 (HPO:0002247) Duodenal atresia 13 / 7739
77
 (HPO:0004453) Overfolding of the superior helices 5 / 7739
78
 (HPO:0004467) Preauricular pit 50.0000 % [HPO] 39 / 7739
79
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
80
 (HPO:0006097) 3-4 finger syndactyly 7 / 7739
81
 (HPO:0006179) Pseudoepiphyses of second metacarpal 1 / 7739
82
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
83
 (HPO:0009779) 3-4 toe syndactyly 4 / 7739
84
 (HPO:0009921) Duane anomaly rare [HPO:skoehler] 9 / 7739
85
 (HPO:0009944) Partial duplication of thumb phalanx 7 / 7739
86
 (HPO:0010331) Aplasia/Hypoplasia of the 3rd toe 1 / 7739
87
 (HPO:0010709) 2-4 finger syndactyly 7.5000 % [HPO] 2 / 7739
88
 (HPO:0010743) Short metatarsal 56 / 7739
89
 (HPO:0100015) Stahl ear 2 / 7739
90
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
91
 (OMIM) Anterior placement of anus 1 / 7739
92
 (OMIM) Rectovaginal/rectoperineal fistula 1 / 7739
93
 (OMIM) Prominent midline perineal raphe 1 / 7739
94
 (OMIM) [DEL]Vaginal aplasia 1 / 7739
95
 (HPO:0100258) Preaxial polydactyly 39 / 7739
96
 (OMIM) Fusion of triquetrum and hamate 1 / 7739
97
 (OMIM) Absent triquetrum and navicular bones 1 / 7739
98
 (OMIM) 2-3 and 3-4 finger syndactyly 1 / 7739
99
 (HPO:0008191) Thyroid agenesis 11 / 7739
100
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
101
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
102
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
103
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
104
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
105
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
106
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
107
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
108
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739