|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
6
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
7
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
11
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
12
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
16
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
17
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
18
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
19
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
20
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
|
21
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
22
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
24
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
27
|
(HPO:0001540)
|
Diastasis recti |
|
|
|
|
23 / 7739
|
|
28
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
29
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
30
|
(HPO:0002036)
|
Hiatus hernia |
|
|
|
|
24 / 7739
|
|
31
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
32
|
(HPO:0002761)
|
Generalized joint laxity |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
34
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
|
35
|
(OMIM)
|
Severely wasted build |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Large fontanel with delayed closure |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Broad, flat forehead |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Microretrognathia in infancy |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Protruding jaw from adolescence |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Facial asymmetry from adolescence |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Low-set and rotated ears |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Eye anomalies, variable |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Anterior chamber abnormality |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Short with hypoplastic columella |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Small mouth in infancy |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Valve anomalies |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Hematomas, recurrent large subcutaneous |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Hemopneumothorax |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Flat, thin pectus |
|
|
|
|
1 / 7739
|
|
50
|
(MedDRA:10061820)
|
Diverticular perforation |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Duodenal obstruction due to malrotation |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Cystitis, recurrent (in some patients) |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Enlarged bladder (in some patients) |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Mild osteopenia in childhood (in some patients) |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
56
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
57
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
58
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
59
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
60
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
61
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
62
|
(OMIM)
|
Tendon abnormalities |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Hypermobility of shoulders |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Adducted thumbs, bilateral, in infancy |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Slender and/or cylindrical fingers |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Hypermobility of small joints |
|
|
|
|
3 / 7739
|
|
67
|
(OMIM)
|
Talipes equinovarus in infancy |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
Talipes valgus and planus, progressive |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Fragile skin with atrophic scarring |
|
|
|
|
1 / 7739
|
|
70
|
(OMIM)
|
Delayed wound healing |
|
|
|
|
5 / 7739
|
|
71
|
(OMIM)
|
Hyperalgesia to pressure |
|
|
|
|
1 / 7739
|
|
72
|
(OMIM)
|
Palmar creases, fine to acrogeria-like |
|
|
|
|
1 / 7739
|
|
73
|
(OMIM)
|
Subcutaneous infections, recurrent, with fistula formation |
|
|
|
|
1 / 7739
|
|
74
|
(OMIM)
|
Fine collagen fibers predominant in reticular to papillary dermis |
|
|
|
|
1 / 7739
|
|
75
|
(OMIM)
|
Thin collagen bundles |
|
|
|
|
1 / 7739
|
|
76
|
(OMIM)
|
Collagen fibrils dispersed in reticular dermis |
|
|
|
|
1 / 7739
|
|
77
|
(OMIM)
|
Smooth, round collagen fibrils |
|
|
|
|
1 / 7739
|
|
78
|
(OMIM)
|
Low muscle mass |
|
|
|
|
1 / 7739
|
|
79
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
80
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
81
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
82
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
83
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
84
|
(OMIM)
|
Mildly enlarged ventricles |
|
|
|
|
1 / 7739
|