Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 11484200 IBIS 137 / 7739
2
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 11484200 IBIS 990 / 7739
3
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 11484200 IBIS 116 / 7739
4
 (HPO:0000369) Low-set ears 11484200 IBIS 372 / 7739
5
 (HPO:0000175) Cleft palate 11484200 IBIS 349 / 7739
6
 (HPO:0001305) Dandy-Walker malformation Very frequent [Orphanet] 11484200 IBIS 79 / 7739
7
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 11484200 IBIS 381 / 7739
8
 (HPO:0000126) Hydronephrosis 11484200 IBIS 119 / 7739
9
 (HPO:0000501) Glaucoma Occasional [Orphanet] 11484200 IBIS 180 / 7739
10
 (HPO:0000921) Missing ribs Occasional [Orphanet] 11484200 IBIS 62 / 7739
11
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Occasional [Orphanet] 11484200 IBIS 28 / 7739
12
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 11484200 IBIS 316 / 7739
13
 (HPO:0004383) Hypoplastic left heart Frequent [Orphanet] 11484200 IBIS 29 / 7739
14
 (HPO:0000054) Micropenis Occasional [Orphanet] 11484200 IBIS 257 / 7739
15
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 11484200 IBIS 89 / 7739
16
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 11484200 IBIS 253 / 7739
17
 (HPO:0000047) Hypospadias Occasional [Orphanet] 11484200 IBIS 250 / 7739
18
 (HPO:0001195) Single umbilical artery Occasional [Orphanet] 11484200 IBIS 23 / 7739
19
 (HPO:0001642) Pulmonic stenosis 11484200 IBIS 89 / 7739
20
 (HPO:0000835) Adrenal hypoplasia 11484200 IBIS 23 / 7739
21
 (HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 11484200 IBIS 26 / 7739
22
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 11484200 IBIS 55 / 7739
23
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 11484200 IBIS 278 / 7739
24
 (HPO:0002023) Anal atresia Occasional [Orphanet] 11484200 IBIS 135 / 7739
25
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 11484200 IBIS 274 / 7739
26
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 11484200 IBIS 644 / 7739
27
 (HPO:0000347) Micrognathia 11484200 IBIS 426 / 7739
28
 (HPO:0000202) Oral cleft Occasional [Orphanet] 11484200 IBIS 120 / 7739
29
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 11484200 IBIS 328 / 7739
30
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 11484200 IBIS 308 / 7739
31
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 24255872 IBIS 298 / 7739
32
 (HPO:0002937) Hemivertebrae 11484200 IBIS 41 / 7739
33
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 11484200 IBIS 242 / 7739
34
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 11484200 IBIS 104 / 7739
35
 (HPO:0000470) Short neck Occasional [Orphanet] 11484200 IBIS 345 / 7739
36
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 24255872 IBIS 72 / 7739
37
 (HPO:0004322) Short stature Frequent [Orphanet] 10528249 IBIS 1232 / 7739
38
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 11484200 IBIS 43 / 7739
39
 (HPO:0006695) Atrioventricular canal defect Frequent [Orphanet] 7573166 IBIS 27 / 7739
40
 (HPO:0000248) Brachycephaly 25434475 IBIS 222 / 7739
41
 (HPO:0000589) Coloboma 11484200 IBIS 47 / 7739
42
 (HPO:0000824) Growth hormone deficiency 11484200 IBIS 56 / 7739
43
 (HPO:0001159) Syndactyly 11484200 IBIS 140 / 7739
44
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 11484200 IBIS 116 / 7739
45
 (HPO:0001511) Intrauterine growth retardation 11484200 IBIS 358 / 7739
46
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 11484200 IBIS 69 / 7739
47
 (HPO:0001650) Aortic valve stenosis 11484200 IBIS 49 / 7739
48
 (HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 11484200 IBIS 32 / 7739
49
 (HPO:0001719) Double outlet right ventricle 11484200 IBIS 12 / 7739
50
 (HPO:0002162) Low posterior hairline 11484200 IBIS 88 / 7739
51
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 11484200 IBIS 308 / 7739
52
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 11484200 IBIS 50 / 7739
53
 (HPO:0007291) Posterior fossa cyst 11484200 IBIS 10 / 7739
54
 (HPO:0008947) Infantile muscular hypotonia 11484200 IBIS 482 / 7739
55
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 11484200 IBIS 76 / 7739
56
 (HPO:0001522) Death in infancy Frequent [Orphanet] 11484200 IBIS 275 / 7739
57
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 11484200 IBIS 492 / 7739
58
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 11484200 IBIS 328 / 7739
59
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 11484200 IBIS 74 / 7739
60
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 11484200 IBIS 298 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 11484200 IBIS 949 / 7739
62
 (HPO:0001654) Abnormality of the heart valves 11484200 IBIS 49 / 7739
63
 (HPO:0002280) Enlarged cisterna magna 11484200 IBIS 12 / 7739
64
 (HPO:0030680) Abnormality of cardiovascular system morphology 11484200 IBIS 355 / 7739
65
 (HPO:0000480) Retinal coloboma 11484200 IBIS 16 / 7739
66
 (HPO:0002194) Delayed gross motor development 11484200 IBIS 37 / 7739
67
 (HPO:0010442) Polydactyly 11484200 IBIS 69 / 7739
68
 (HPO:0001770) Toe syndactyly 11484200 IBIS 149 / 7739
69
 (HPO:0000957) Cafe-au-lait spot 11484200 IBIS 84 / 7739
70
 (HPO:0001156) Brachydactyly syndrome 11484200 IBIS 180 / 7739
71
 (HPO:0004209) Clinodactyly of the 5th finger 11484200 IBIS 288 / 7739
72
 (HPO:0001357) Plagiocephaly 11484200 IBIS 106 / 7739
73
 (HPO:0011220) Prominent forehead 11484200 IBIS 137 / 7739
74
 (HPO:0001508) Failure to thrive 11484200 IBIS 454 / 7739
75
 (HPO:0001804) Hypoplastic fingernail 11484200 IBIS 62 / 7739
76
 (HPO:0000023) Inguinal hernia 11484200 IBIS 181 / 7739
77
 (HPO:0001537) Umbilical hernia 11484200 IBIS 206 / 7739
78
 (HPO:0011662) Tricuspid atresia 11484200 IBIS 4 / 7739
79
 (HPO:0008736) Hypoplasia of penis 11484200 IBIS 7 / 7739
80
 (HPO:0008751) Laryngeal cleft 11484200 IBIS 5 / 7739
81
 (HPO:0000045) Abnormality of the scrotum 11484200 IBIS 14 / 7739
82
 (HPO:0003819) Death in childhood 11484200 IBIS 42 / 7739
83
 (HPO:0000474) Thickened nuchal skin fold 11484200 IBIS 10 / 7739
84
 (HPO:0001762) Talipes equinovarus 25434475 IBIS 309 / 7739
85
 (HPO:0001999) Abnormal facial shape 11484200 IBIS 169 / 7739
86
 (HPO:0002079) Hypoplasia of the corpus callosum 11484200 IBIS 161 / 7739
87
 (HPO:0010946) Dilatation of the renal pelvis 11484200 IBIS 2 / 7739
88
 (HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis 11484200 IBIS 15 / 7739