Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
2
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
3
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
4
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
7
 (HPO:0000528) Anophthalmia 42 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0000104) Renal agenesis 68 / 7739
10
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
11
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
12
 (HPO:0002779) Tracheomalacia Occasional [Orphanet] 26 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000600) Abnormality of the pharynx Occasional [Orphanet] 22 / 7739
15
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
16
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
17
 (HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21 / 7739
18
 (HPO:0002937) Hemivertebrae 41 / 7739
19
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
20
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
21
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
22
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
23
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
24
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
25
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
26
 (HPO:0004452) Abnormality of the middle ear ossicles Frequent [Orphanet] 26 / 7739
27
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
28
 (HPO:0000086) Ectopic kidney 29 / 7739
29
 (HPO:0008551) Microtia 98 / 7739
30
 (HPO:0009892) Anotia 8 / 7739
31
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
32
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
33
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
34
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
35
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
36
 (HPO:0001140) Epibulbar dermoid Frequent [Orphanet] 11 / 7739
37
 (HPO:0000384) Preauricular skin tag Very frequent [Orphanet] 62 / 7739
38
 (HPO:0001249) Intellectual disability 1089 / 7739
39
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
40
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
41
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
42
 (HPO:0000074) Ureteropelvic junction obstruction 15 / 7739
43
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
44
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
45
 (HPO:0000238) Hydrocephalus 278 / 7739
46
 (HPO:0000272) Malar flattening 277 / 7739
47
 (HPO:0000324) Facial asymmetry 57 / 7739
48
 (HPO:0000405) Conductive hearing impairment 164 / 7739
49
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
50
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
51
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
52
 (HPO:0000486) Strabismus 576 / 7739
53
 (HPO:0000581) Blepharophimosis 197 / 7739
54
 (HPO:0000636) Upper eyelid coloboma 7 / 7739
55
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
56
 (HPO:0001680) Coarctation of aorta 57 / 7739
57
 (HPO:0002085) Occipital encephalocele 20 / 7739
58
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
59
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
60
 (HPO:0003305) Block vertebrae 7 / 7739
61
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
62
 (HPO:0004660) Hypoplasia of facial musculature 1 / 7739
63
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
64
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
65
 (HPO:0008417) Vertebral hypoplasia 6 / 7739
66
 (HPO:0008605) Unilateral external ear deformity 1 / 7739
67
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
68
 (HPO:0009794) Branchial anomaly 5 / 7739
69
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
70
 (OMIM) Small half of face 1 / 7739
71
 (HPO:0004467) Preauricular pit 39 / 7739
72
 (OMIM) Lipodermoid 1 / 7739
73
 (OMIM) Parotid agenesis 1 / 7739
74
 (OMIM) Soft palate malfunction 1 / 7739
75
 (OMIM) Branchial cleft remnant 1 / 7739
76
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
77
 (OMIM) Hypoplasia of septum pellucidum 1 / 7739
78
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
79
 (HPO:0004426) Abnormality of the cheek Frequent [Orphanet] 3 / 7739
80
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
81
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
82
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
83
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
84
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
85
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
86
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739