Symptom Information: Sort according to HPO 

1
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
2
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
(HPO:0002974) Radioulnar synostosis Occasional [Orphanet] Very rare [HPO:skoehler] 52 / 7739
4
(HPO:0005037) Proximal radio-ulnar synostosis 6 / 7739
5
(HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
6
(HPO:0004684) Talipes valgus Frequent [Orphanet] 28 / 7739
7
(HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
8
(HPO:0006443) Patellar aplasia 14 / 7739
9
(HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 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:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
14
(HPO:0000347) Micrognathia 426 / 7739
15
(HPO:0000028) Cryptorchidism 347 / 7739
16
(HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
17
(HPO:0000126) Hydronephrosis 119 / 7739
18
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
19
(HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
20
(HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
21
(HPO:0000113) Polycystic kidney dysplasia Very frequent [Orphanet] 75 / 7739
22
(HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
23
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
24
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
25
(HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
26
(HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
27
(HPO:0002209) Sparse scalp hair 59 / 7739
28
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
29
(HPO:0009803) Short phalanx of finger 79 / 7739
30
(HPO:0000448) Prominent nose 56 / 7739
31
(HPO:0001263) Global developmental delay 853 / 7739
32
(HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
33
(HPO:0000003) Multicystic kidney dysplasia 17 / 7739
34
(HPO:0000054) Micropenis 257 / 7739
35
(HPO:0000280) Coarse facial features 189 / 7739
36
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
37
(HPO:0001252) Muscular hypotonia 990 / 7739
38
(HPO:0001324) Muscle weakness 859 / 7739
39
(HPO:0001374) Congenital hip dislocation 51 / 7739
40
(HPO:0001561) Polyhydramnios 191 / 7739
41
(HPO:0001601) Laryngomalacia 61 / 7739
42
(HPO:0001629) Ventricular septal defect 316 / 7739
43
(HPO:0001762) Talipes equinovarus 309 / 7739
44
(HPO:0002015) Dysphagia 301 / 7739
45
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
46
(HPO:0002999) Patellar dislocation 46 / 7739
47
(HPO:0003175) Hypoplastic ischia 12 / 7739
48
(HPO:0003273) Hip contracture 30 / 7739
49
(HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
50
(HPO:0006380) Knee flexion contracture 56 / 7739
51
(HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
52
(HPO:0006887) Intellectual disability, progressive 68 / 7739
53
(HPO:0007165) Periventricular gray matter heterotopia 4 / 7739
54
(HPO:0008665) Clitoral hypertrophy 10 / 7739
55
(HPO:0008694) Hypertrophic labia minora 2 / 7739
56
(HPO:0008823) Hypoplastic inferior pubic rami 1 / 7739
57
(OMIM) Anteriorly positioned anus 2 / 7739
58
(OMIM) Hypoplastic perineum 1 / 7739
59
(OMIM) Hypoplasic scrotum 1 / 7739
60
(OMIM) Hip flexion deformities 1 / 7739
61
(HPO:0003121) Limb joint contracture 8 / 7739
62
(MedDRA:10072883) Brachydactyly 153 / 7739
63
(OMIM) Dimple overlying knee 1 / 7739
64
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
65
(HPO:0010547) Muscle flaccidity 466 / 7739
66
(OMIM) Colpocephaly 3 / 7739
67
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
68
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
69
(HPO:0012815) Hypoplastic female external genitalia Very frequent [Orphanet] 36 / 7739
70
(HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
71
(HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
72
(HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
73
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
74
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
75
(HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
76
(HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
77
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
78
(HPO:0001156) Brachydactyly syndrome 180 / 7739
79
(HPO:0030048) Colpocephaly 4 / 7739