Symptom Information: Sort according to HPO 

1
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
(HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
3
(HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
4
(HPO:0000771) Gynecomastia Frequent [Orphanet] 53 / 7739
5
(HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
6
(HPO:0005103) Calcification of the auricular cartilage Very frequent [Orphanet] 3 / 7739
7
(HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
8
(HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
9
(HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
10
(HPO:0002868) Narrow iliac wings 15 / 7739
11
(HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
12
(HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
13
(HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
14
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
15
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
16
(HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
17
(HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
18
(HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
19
(HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
20
(HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
21
(HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
22
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
23
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
24
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
25
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
26
(HPO:0012062) Bone cyst Very frequent [Orphanet] 19 / 7739
27
(HPO:0001249) Intellectual disability 1089 / 7739
28
(HPO:0000256) Macrocephaly 298 / 7739
29
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
30
(HPO:0000365) Hearing impairment 539 / 7739
31
(HPO:0000400) Macrotia 108 / 7739
32
(HPO:0000490) Deeply set eye 131 / 7739
33
(HPO:0000939) Osteoporosis 129 / 7739
34
(HPO:0001115) Posterior polar cataract 8 / 7739
35
(HPO:0001761) Pes cavus 225 / 7739
36
(HPO:0001840) Metatarsus adductus 49 / 7739
37
(HPO:0002180) Neurodegeneration 31 / 7739
38
(HPO:0002221) Absent axillary hair 6 / 7739
39
(HPO:0002550) Absent facial hair 3 / 7739
40
(HPO:0002857) Genu valgum 144 / 7739
41
(HPO:0003273) Hip contracture 30 / 7739
42
(HPO:0003301) Irregular vertebral endplates 25 / 7739
43
(HPO:0003693) Distal amyotrophy 118 / 7739
44
(HPO:0005121) Posterior scalloping of vertebral bodies 4 / 7739
45
(HPO:0005758) Basilar impression 6 / 7739
46
(HPO:0006380) Knee flexion contracture 56 / 7739
47
(HPO:0008541) Superiorly displaced ears 1 / 7739
48
(HPO:0009882) Short distal phalanx of finger 125 / 7739
49
(OMIM) Downward sloping ribs 1 / 7739
50
(HPO:0001371) Flexion contracture 220 / 7739
51
(HPO:0009473) Joint contracture of the hand 84 / 7739
52
(OMIM) Cystic bone lesions 1 / 7739
53
(OMIM) Short terminal phalanges 5 / 7739
54
(OMIM) Flexed toes 1 / 7739
55
(OMIM) Dystrophic fingernails and toenails 1 / 7739
56
(OMIM) Absent facial, axillary, body hair 1 / 7739
57
(HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
58
(HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
59
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
60
(HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
61
(HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
62
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
(HPO:0000179) Thick lower lip vermilion 72 / 7739
64
(HPO:0000248) Brachycephaly 222 / 7739
65
(HPO:0000272) Malar flattening 277 / 7739
66
(HPO:0000337) Broad forehead 116 / 7739
67
(HPO:0000508) Ptosis 459 / 7739
68
(HPO:0000717) Autism rare [HPO:skoehler] 108 / 7739
69
(HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
70
(HPO:0001252) Muscular hypotonia 990 / 7739
71
(HPO:0001956) Truncal obesity 39 / 7739
72
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
73
(HPO:0002514) Cerebral calcification rare [HPO:skoehler] 89 / 7739
74
(HPO:0003745) Sporadic 131 / 7739
75
(HPO:0008689) Bilateral cryptorchidism rare [HPO:skoehler] 38 / 7739
76
(HPO:0040160) Generalized osteoporosis 7 / 7739
77
(HPO:0100716) Self-injurious behavior rare [HPO:skoehler] 43 / 7739