Symptom Information: Sort according to HPO 

1
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
2
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
5
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
6
 (HPO:0001829) Foot polydactyly Occasional [Orphanet] 41 / 7739
7
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
8
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
9
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
10
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
11
 (HPO:0001019) Erythroderma 24 / 7739
12
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
13
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
14
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
15
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
16
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
17
 (HPO:0002299) Brittle hair Occasional [Orphanet] 52 / 7739
18
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
19
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
21
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
22
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
23
 (HPO:0012368) Flat face Occasional [Orphanet] 106 / 7739
24
 (HPO:0000126) Hydronephrosis 119 / 7739
25
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
26
 (HPO:0000365) Hearing impairment 539 / 7739
27
 (HPO:0000377) Abnormality of the pinna 111 / 7739
28
 (HPO:0000470) Short neck 345 / 7739
29
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
30
 (HPO:0000501) Glaucoma 180 / 7739
31
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
32
 (HPO:0000639) Nystagmus 555 / 7739
33
 (HPO:0000653) Sparse eyelashes 58 / 7739
34
 (HPO:0000765) Abnormality of the thorax 64 / 7739
35
 (HPO:0000969) Edema 117 / 7739
36
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
37
 (HPO:0001508) Failure to thrive 454 / 7739
38
 (HPO:0001510) Growth delay 295 / 7739
39
 (HPO:0001561) Polyhydramnios 191 / 7739
40
 (HPO:0001596) Alopecia 162 / 7739
41
 (HPO:0001776) Bilateral talipes equinovarus 8 / 7739
42
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
43
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
44
 (HPO:0002650) Scoliosis 705 / 7739
45
 (HPO:0002777) Tracheal stenosis 35 / 7739
46
 (HPO:0002787) Tracheal calcification 3 / 7739
47
 (HPO:0002937) Hemivertebrae 41 / 7739
48
 (HPO:0002999) Patellar dislocation 46 / 7739
49
 (HPO:0003462) Elevated 8-dehydrocholesterol 2 / 7739
50
 (HPO:0003465) Elevated 8(9)-cholestenol 2 / 7739
51
 (HPO:0004241) Stippled calcification in carpal bones 1 / 7739
52
 (HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
53
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
54
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
55
 (HPO:0008131) Tarsal stippling 1 / 7739
56
 (HPO:0008420) Punctate vertebral calcifications 2 / 7739
57
 (HPO:0008897) Postnatal growth retardation 113 / 7739
58
 (HPO:0010655) Epiphyseal stippling 32 / 7739
59
 (HPO:0011120) Concave nasal ridge 9 / 7739
60
 (HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
61
 (HPO:0100556) Hemiatrophy 2 / 7739
62
 (OMIM) Mild to moderate growth deficiency 1 / 7739
63
 (OMIM) Hypoplasia of malar eminences 1 / 7739
64
 (OMIM) Punctate calcific stippling sternum, ribs, coracoid process, and glenoid fossae of scapula 1 / 7739
65
 (OMIM) Vertebral calcifications 1 / 7739
66
 (OMIM) Calcific deposits of ischium and pubis 1 / 7739
67
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
68
 (OMIM) Bilateral club feet 2 / 7739
69
 (HPO:0100837) Atrophodermia vermiculata 3 / 7739
70
 (HPO:0001072) Thickened skin 87 / 7739
71
 (OMIM) Skin lesions follow the lines of Blaschko 1 / 7739
72
 (OMIM) Coarse, sparse hair 1 / 7739
73
 (OMIM) Patchy areas of alopecia 1 / 7739
74
 (OMIM) Mental retardation, mild-moderate 6 / 7739
75
 (HPO:0002119) Ventriculomegaly 253 / 7739
76
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
77
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
78
 (HPO:0002817) Abnormality of the upper limb Very frequent [Orphanet] 25 / 7739
79
 (HPO:0008905) Rhizomelia Occasional [Orphanet] 85 / 7739
80
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
81
 (HPO:0003577) Congenital onset 133 / 7739
82
 (HPO:0003828) Variable expressivity 130 / 7739