Symptom Information: Sort according to HPO 

1
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
2
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
3
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
4
 (HPO:0000691) Microdontia Frequent [Orphanet] Occasional [HPO:probinson] 104 / 7739
5
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
6
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
7
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 35 / 7739
8
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
9
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
10
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
11
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
12
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
13
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
14
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
15
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
16
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
17
 (HPO:0000448) Prominent nose 56 / 7739
18
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
19
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
20
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
21
 (HPO:0100545) Arterial stenosis Occasional [Orphanet] 22 / 7739
22
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
23
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
24
 (HPO:0000278) Retrognathia 100 / 7739
25
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
26
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
27
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
28
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
29
 (HPO:0002812) Coxa vara 58 / 7739
30
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
31
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
32
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
33
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
34
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
35
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
36
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
37
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
38
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
39
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
40
 (HPO:0100659) Abnormality of the cerebral vasculature Occasional [Orphanet] 25 / 7739
41
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
42
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
43
 (HPO:0001249) Intellectual disability 1089 / 7739
44
 (HPO:0001263) Global developmental delay 853 / 7739
45
 (HPO:0000047) Hypospadias 250 / 7739
46
 (HPO:0000340) Sloping forehead 86 / 7739
47
 (HPO:0000426) Prominent nasal bridge 121 / 7739
48
 (HPO:0000540) Hypermetropia 99 / 7739
49
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
50
 (HPO:0000774) Narrow chest rare [HPO:skoehler] 167 / 7739
51
 (HPO:0000882) Hypoplastic scapulae rare [HPO:skoehler] 28 / 7739
52
 (HPO:0000890) Long clavicles Occasional [HPO:probinson] 13 / 7739
53
 (HPO:0001377) Limited elbow extension rare [HPO:skoehler] 38 / 7739
54
 (HPO:0001620) High pitched voice 32 / 7739
55
 (HPO:0002209) Sparse scalp hair 59 / 7739
56
 (HPO:0002690) Large sella turcica rare [HPO:skoehler] 12 / 7739
57
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
58
 (HPO:0002982) Tibial bowing 36 / 7739
59
 (HPO:0002986) Radial bowing 27 / 7739
60
 (HPO:0003015) Flared metaphysis 44 / 7739
61
 (HPO:0003031) Ulnar bowing 16 / 7739
62
 (HPO:0003275) Narrow pelvis bone 8 / 7739
63
 (HPO:0003498) Disproportionate short stature 28 / 7739
64
 (HPO:0004944) Cerebral aneurysm 12 / 7739
65
 (HPO:0005819) Short middle phalanx of finger rare [HPO:skoehler] 28 / 7739
66
 (HPO:0005978) Type II diabetes mellitus 68 / 7739
67
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
68
 (HPO:0006461) Proximal femoral epiphysiolysis 5 / 7739
69
 (HPO:0006587) Straight clavicles Occasional [HPO:probinson] 3 / 7739
70
 (HPO:0006645) Thin clavicles Occasional [HPO:probinson] 4 / 7739
71
 (HPO:0008551) Microtia 98 / 7739
72
 (HPO:0008897) Postnatal growth retardation 113 / 7739
73
 (HPO:0009193) Pseudoepiphyses of the metacarpals 4 / 7739
74
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
75
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
76
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
77
 (HPO:0010034) Short 1st metacarpal 19 / 7739
78
 (HPO:0010579) Cone-shaped epiphysis Occasional [HPO:probinson] 54 / 7739
79
 (HPO:0010583) Ivory epiphyses Occasional [HPO:probinson] 4 / 7739
80
 (HPO:0011834) Moyamoya phenomenon 4 / 7739
81
 (HPO:0100263) Distal symphalangism rare [HPO:skoehler] 5 / 7739
82
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
83
 (OMIM) Adult height (<100cm) 2 / 7739
84
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
85
 (OMIM) Opalescent teeth 4 / 7739
86
 (OMIM) Microdontia, severe (in some patients) 2 / 7739
87
 (OMIM) Rootless molars (in some patients) 2 / 7739
88
 (HPO:0006338) Malformation of mandibular premolar 2 / 7739
89
 (OMIM) Long, slender, straight clavicles (in some patients) 2 / 7739
90
 (OMIM) High, narrow pelvis 2 / 7739
91
 (OMIM) Flat acetabular angles 2 / 7739
92
 (OMIM) Short bowed radii 5 / 7739
93
 (OMIM) Short bowed ulnae 2 / 7739
94
 (OMIM) V-shaped flaring of distal femoral metaphyses 2 / 7739
95
 (OMIM) Bowed, short femora 4 / 7739
96
 (OMIM) Bowed, short tibiae 4 / 7739
97
 (MedDRA:10072883) Brachydactyly 153 / 7739
98
 (OMIM) Ivory and cone-shaped epiphyses (in some patients - disappears with age) 2 / 7739
99
 (OMIM) Angular scaphoid and trapezium bones (in some patients) 2 / 7739
100
 (HPO:0001204) Distal symphalangism of hands 13 / 7739
101
 (HPO:0001859) Distal foot symphalangism 4 / 7739
102
 (OMIM) Long second toe (in some patients) 3 / 7739
103
 (HPO:0007402) Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 2 / 7739
104
 (OMIM) Normal intelligence 81 / 7739
105
 (OMIM) Multiple aneurysms 2 / 7739
106
 (MedDRA:10028047) Moyamoya disease 4 / 7739
107
 (OMIM) Infarcts 2 / 7739
108
 (OMIM) Type II diabetes 2 / 7739
109
 (OMIM) Premature puberty 2 / 7739
110
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
111
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
112
 (HPO:0002617) Aneurysm Occasional [Orphanet] 34 / 7739
113
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
114
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
115
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
116
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
117
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
118
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
119
 (HPO:0003100) Slender long bone 45 / 7739