Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
3
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
4
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
5
 (HPO:0000527) Long eyelashes 46 / 7739
6
 (HPO:0001007) Hirsutism 91 / 7739
7
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
8
 (HPO:0010761) Broad columella Very frequent [Orphanet] 10 / 7739
9
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
12
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
13
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
14
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
15
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
16
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
17
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
18
 (HPO:0000243) Trigonocephaly Occasional [Orphanet] 40 / 7739
19
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
20
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
22
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
24
 (HPO:0000486) Strabismus Occasional [Orphanet] rare [HPO:skoehler] 576 / 7739
25
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
26
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
27
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
28
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
29
 (HPO:0001388) Joint laxity 117 / 7739
30
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
31
 (HPO:0010481) Urethral valve 7 / 7739
32
 (HPO:0010957) Congenital posterior urethral valve rare [HPO:skoehler] 9 / 7739
33
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
34
 (HPO:0000448) Prominent nose 56 / 7739
35
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
36
 (HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
37
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
38
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
39
 (HPO:0000047) Hypospadias rare [HPO:skoehler] 250 / 7739
40
 (HPO:0000121) Nephrocalcinosis rare [HPO:skoehler] 57 / 7739
41
 (HPO:0000126) Hydronephrosis rare [HPO:skoehler] 119 / 7739
42
 (HPO:0000319) Smooth philtrum 72 / 7739
43
 (HPO:0000403) Recurrent otitis media rare [HPO:skoehler] 61 / 7739
44
 (HPO:0000405) Conductive hearing impairment rare [HPO:skoehler] 164 / 7739
45
 (HPO:0008513) Bilateral conductive hearing impairment 11 / 7739
46
 (HPO:0008591) Congenital conductive hearing impairment 8 / 7739
47
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
48
 (HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
49
 (HPO:0008499) High-grade hypermetropia 14 / 7739
50
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
51
 (HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
52
 (HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
53
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
54
 (HPO:0001680) Coarctation of aorta rare [HPO:skoehler] 57 / 7739
55
 (HPO:0005113) Dilatation of the aortic arch 12 / 7739
56
 (HPO:0002162) Low posterior hairline 88 / 7739
57
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
58
 (HPO:0002474) Expressive language delay 8 / 7739
59
 (HPO:0002608) Celiac disease 5 / 7739
60
 (HPO:0002714) Downturned corners of mouth 98 / 7739
61
 (HPO:0005301) Persistent left superior vena cava rare [HPO:skoehler] 4 / 7739
62
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
63
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
64
 (HPO:0011599) Mesocardia rare [HPO:skoehler] 2 / 7739
65
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
66
 (HPO:0100736) Abnormality of the soft palate Frequent [Orphanet] 6 / 7739
67
 (OMIM) Prenatal onset of short stature 1 / 7739
68
 (HPO:0001539) Omphalocele 102 / 7739
69
 (OMIM) Epididymal cysts, bilateral (rare) 1 / 7739
70
 (HPO:0100677) Vulval varicose vein 3 / 7739
71
 (OMIM) Unilateral renal pelviectasis (rare) 1 / 7739
72
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
73
 (OMIM) Normal motor development 2 / 7739
74
 (OMIM) Intellectual impairment, mild 3 / 7739
75
 (OMIM) Normal endocrinologic studies (growth hormone, somatomedin C, thyroid function) 1 / 7739
76
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
77
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
78
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
79
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
80
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
81
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
82
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
83
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
84
 (HPO:0012871) Varicocele rare [HPO:skoehler] 4 / 7739