|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
8
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
9
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
12
|
(HPO:0000476)
|
Cystic hygroma |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
16
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
17
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0000917)
|
Superior pectus carinatum |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0001004)
|
Lymphedema |
|
|
|
|
62 / 7739
|
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
22
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
|
23
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
24
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
25
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
26
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
27
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
28
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
29
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
30
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
31
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
32
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
33
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
34
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
35
|
(HPO:0004859)
|
Amegakaryocytic thrombocytopenia |
|
|
|
|
3 / 7739
|
|
36
|
(HPO:0100697)
|
Neurofibrosarcoma |
|
|
|
|
5 / 7739
|
|
37
|
(OMIM)
|
Specific growth curves are available |
|
|
|
|
5 / 7739
|
|
38
|
(OMIM)
|
Triangular face with age |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Blue-green irides |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Deeply grooved philtrum |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
High peaks of upper lip vermilion border |
|
|
|
|
2 / 7739
|
|
42
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
43
|
(OMIM)
|
Occasional hypogonadism |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Male infertility in individuals with bilateral cryptorchidism |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Vertebral abnormalities |
|
|
|
|
2 / 7739
|
|
46
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
47
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
48
|
(OMIM)
|
Blunt fingertips |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Polyarticular villonodular synovitis (knees, ankles, wrists, elbows (in some patients) |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Woolly-like hair |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Articulation difficulties |
|
|
|
|
1 / 7739
|
|
52
|
(MedDRA:10047715)
|
Von Willebrand's disease |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Multiple giant cell granulomas (bones, joints, soft tissues) |
|
|
|
|
2 / 7739
|
|
54
|
(OMIM)
|
Partial deficiency of factor XI (less common) |
|
|
|
|
2 / 7739
|
|
55
|
(OMIM)
|
Partial deficiency of factor XII(C) |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Partial deficiency of factor XIII (less common) |
|
|
|
|
2 / 7739
|
|
57
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|