Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
3
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
4
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
11
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
12
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
13
 (HPO:0002247) Duodenal atresia 13 / 7739
14
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
15
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
16
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
17
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
18
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
19
 (HPO:0000126) Hydronephrosis 119 / 7739
20
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 14 % [HPO:skoehler] 191 / 7739
21
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
22
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
23
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
24
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Very frequent [Orphanet] 28 / 7739
25
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
26
 (HPO:0000775) Abnormality of the diaphragm Very frequent [Orphanet] 62 / 7739
27
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
28
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
29
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
30
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
31
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
32
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
33
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
34
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
35
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
36
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
37
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
38
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
39
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
40
 (HPO:0000028) Cryptorchidism 347 / 7739
41
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 104 / 7739
42
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
43
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
44
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
45
 (HPO:0000161) Median cleft lip Frequent [Orphanet] 27 / 7739
46
 (HPO:0001249) Intellectual disability 1089 / 7739
47
 (HPO:0001792) Small nail 55 / 7739
48
 (HPO:0000048) Bifid scrotum 36 / 7739
49
 (HPO:0000049) Shawl scrotum 31 / 7739
50
 (HPO:0000073) Ureteral duplication 11 / 7739
51
 (HPO:0000104) Renal agenesis 68 / 7739
52
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
53
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
54
 (HPO:0000308) Microretrognathia 78 / 7739
55
 (HPO:0000475) Broad neck 12 / 7739
56
 (HPO:0000581) Blepharophimosis 197 / 7739
57
 (HPO:0000813) Bicornuate uterus 22 / 7739
58
 (HPO:0000883) Thin ribs 31 / 7739
59
 (HPO:0000885) Broad ribs 21 / 7739
60
 (HPO:0000954) Single transverse palmar crease 162 / 7739
61
 (HPO:0001212) Prominent fingertip pads 12 / 7739
62
 (HPO:0001520) Large for gestational age 34 / 7739
63
 (HPO:0001629) Ventricular septal defect 316 / 7739
64
 (HPO:0001631) Atria septal defect 274 / 7739
65
 (HPO:0001748) Polysplenia 14 / 7739
66
 (HPO:0001798) Anonychia 28 / 7739
67
 (HPO:0001838) Rocker bottom foot 85 / 7739
68
 (HPO:0002032) Esophageal atresia 19 / 7739
69
 (HPO:0002139) Arrhinencephaly 13 / 7739
70
 (HPO:0002245) Meckel diverticulum 12 / 7739
71
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
72
 (HPO:0006278) Ectopic pancreatic tissue 1 / 7739
73
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
74
 (HPO:0007036) Hypoplasia of olfactory tract 2 / 7739
75
 (HPO:0007096) Hypoplasia of the optic tract 1 / 7739
76
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
77
 (HPO:0009112) Absent left hemidiaphragm 1 / 7739
78
 (HPO:0009473) Joint contracture of the hand 84 / 7739
79
 (HPO:0009623) Proximal placement of thumb 50 / 7739
80
 (HPO:0009778) Short thumb 50 / 7739
81
 (HPO:0009937) Facial hirsutism 4 / 7739
82
 (HPO:0010310) Chylothorax 6 / 7739
83
 (HPO:0011039) Abnormality of the helix 33 / 7739
84
 (HPO:0012385) Camptodactyly 113 / 7739
85
 (OMIM) Hirsute face 1 / 7739
86
 (OMIM) Poorly formed ears 1 / 7739
87
 (OMIM) Short broad neck 3 / 7739
88
 (Orphanet:34800) Aortic arches anomalies 2 / 7739
89
 (OMIM) Pulmonary lobation defect 1 / 7739
90
 (OMIM) Diaphragmatic defect, often unilateral and left-sided 1 / 7739
91
 (OMIM) Aganglionosis of colon 1 / 7739
92
 (OMIM) Anomalous attachment of gut 1 / 7739
93
 (OMIM) Anterior or posterior placement of anus 1 / 7739
94
 (OMIM) Uterine atresia 1 / 7739
95
 (OMIM) Cervical atresia 1 / 7739
96
 (OMIM) Uterus and vagina duplex 1 / 7739
97
 (HPO:0000070) Ureterocele 5 / 7739
98
 (OMIM) Duplicate ureter 1 / 7739
99
 (OMIM) Atretic ureter 1 / 7739
100
 (OMIM) Short terminal phalanges 5 / 7739
101
 (OMIM) Mental retardation in survivors 1 / 7739
102
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
103
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
104
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
105
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
106
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
107
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
108
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
109
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
110
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
111
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
112
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
113
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
114
 (HPO:0003826) Stillbirth 40 / 7739