Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
3
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
4
 (HPO:0003700) Generalized amyotrophy 39 / 7739
5
 (HPO:0100295) Muscle fiber atrophy 22 / 7739
6
 (HPO:0001602) Laryngeal stenosis Occasional [Orphanet] 21 / 7739
7
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
8
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
9
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
10
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 35 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
12
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
13
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
14
 (HPO:0000218) High palate 356 / 7739
15
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
16
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
17
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
18
 (HPO:0000126) Hydronephrosis 119 / 7739
19
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
20
 (HPO:0005048) Synostosis of carpal bones Frequent [Orphanet] 39 / 7739
21
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
22
 (HPO:0000071) Ureteral stenosis Occasional [Orphanet] 9 / 7739
23
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
24
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
25
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
26
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
27
 (HPO:0001166) Arachnodactyly 62 / 7739
28
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
29
 (HPO:0006695) Atrioventricular canal defect Occasional [Orphanet] 27 / 7739
30
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
31
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
32
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
33
 (HPO:0005616) Accelerated skeletal maturation Frequent [Orphanet] 46 / 7739
34
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
35
 (HPO:0000280) Coarse facial features 189 / 7739
36
 (HPO:0000307) Pointed chin 45 / 7739
37
 (HPO:0000331) Short chin 33 / 7739
38
 (HPO:0000431) Wide nasal bridge 290 / 7739
39
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
40
 (HPO:0000689) Dental malocclusion 114 / 7739
41
 (HPO:0001007) Hirsutism 91 / 7739
42
 (HPO:0001239) Wrist flexion contracture 13 / 7739
43
 (HPO:0001249) Intellectual disability 1089 / 7739
44
 (HPO:0001592) Selective tooth agenesis 16 / 7739
45
 (HPO:0001634) Mitral valve prolapse 69 / 7739
46
 (HPO:0001648) Cor pulmonale 16 / 7739
47
 (HPO:0001833) Long foot 33 / 7739
48
 (HPO:0002673) Coxa valga 57 / 7739
49
 (HPO:0002700) Large foramen magnum 6 / 7739
50
 (HPO:0002857) Genu valgum 144 / 7739
51
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
52
 (HPO:0002987) Elbow flexion contracture 64 / 7739
53
 (HPO:0003691) Scapular winging 51 / 7739
54
 (HPO:0003779) Antegonial notching of mandible 2 / 7739
55
 (HPO:0004608) Anteriorly placed odontoid process 1 / 7739
56
 (HPO:0006155) Long phalanx of finger 1 / 7739
57
 (HPO:0006207) Partial fusion of carpals 1 / 7739
58
 (HPO:0006335) Persistence of primary teeth 12 / 7739
59
 (HPO:0006380) Knee flexion contracture 56 / 7739
60
 (HPO:0006440) Increased density of long bone diaphyses 1 / 7739
61
 (HPO:0006466) Ankle contracture 17 / 7739
62
 (HPO:0006665) Coat hanger sign of ribs 1 / 7739
63
 (HPO:0008097) Partial fusion of tarsals 1 / 7739
64
 (HPO:0009768) Broad phalanges of the hand 3 / 7739
65
 (HPO:0010307) Stridor 19 / 7739
66
 (OMIM) Progressive mixed conductive and sensorineural hearing loss 1 / 7739
67
 (OMIM) Subglottic tracheal narrowing 1 / 7739
68
 (OMIM) Congenital stridor 2 / 7739
69
 (OMIM) Irregular rib contours 1 / 7739
70
 (OMIM) Incomplete sinus development 1 / 7739
71
 (OMIM) Hypoplastic condyloid process 1 / 7739
72
 (OMIM) Wide interpedicular distance 1 / 7739
73
 (OMIM) Flared pelvis 1 / 7739
74
 (OMIM) Erlenmeyer-flask appearance of femur and tibia 1 / 7739
75
 (OMIM) Finger and wrist contractures 1 / 7739
76
 (OMIM) Wide and elongated phalanges 1 / 7739
77
 (OMIM) Large feet 12 / 7739
78
 (OMIM) Hirsutism of buttocks and thighs 1 / 7739
79
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
80
 (HPO:0009119) Aplasia/Hypoplasia of the frontal sinuses Very frequent [Orphanet] 6 / 7739
81
 (HPO:0001419) X-linked recessive inheritance 189 / 7739