|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
11
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
13
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
14
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
16
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
18
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
21
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
22
|
(HPO:0003010)
|
Prolonged bleeding time |
rare [HPO:skoehler]
|
|
|
|
88 / 7739
|
|
23
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
24
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
25
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
26
|
(HPO:0009890)
|
High anterior hairline |
|
|
|
|
10 / 7739
|
|
27
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
28
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
29
|
(OMIM)
|
Blunt fingertips |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Polyarticular villonodular synovitis (knees, ankles, wrists, elbows (in some patients) |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Ectodermal symptoms |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10066295)
|
Keratosis pilaris |
|
|
|
|
11 / 7739
|
|
33
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
34
|
(OMIM)
|
Multiple giant cell granulomas (bones, joints, soft tissues) |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Partial deficiency of factor XI (less common) |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Partial deficiency of factor XIII (less common) |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|