|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000049)
|
Shawl scrotum |
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000349)
|
Widow's peak |
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0000394)
|
Lop ear |
|
|
|
|
6 / 7739
|
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
10
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
11
|
(HPO:0000484)
|
Hyperopic astigmatism |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
17
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
|
18
|
(HPO:0001380)
|
Ligamentous laxity |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
20
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
|
21
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
22
|
(HPO:0002055)
|
Curved linear dimple below the lower lip |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
24
|
(HPO:0002816)
|
Genu recurvatum |
|
|
|
|
30 / 7739
|
|
25
|
(HPO:0003318)
|
Cervical spine hypermobility |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0004792)
|
Rectoperineal fistula |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0005190)
|
Proximal finger joint hyperextensibility |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
|
|
26 / 7739
|
|
29
|
(HPO:0010886)
|
Osteochondritis Dissecans |
|
|
|
|
9 / 7739
|
|
30
|
(OMIM)
|
Normocephaly |
|
|
|
|
10 / 7739
|
|
31
|
(OMIM)
|
Saddle-bag scrotum |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Broad upper lip |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Odontoid anomaly |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Flexed distal finger joints |
|
|
|
|
1 / 7739
|
|
35
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
36
|
(OMIM)
|
Digital contractures |
|
|
|
|
2 / 7739
|
|
37
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
38
|
(OMIM)
|
Mild syndactyly |
|
|
|
|
4 / 7739
|
|
39
|
(OMIM)
|
Lymphedema of the feet |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Large cornea |
|
|
|
|
4 / 7739
|
|
41
|
(OMIM)
|
Hemochromatosis |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Mild to moderate short stature |
|
|
|
|
7 / 7739
|
|
43
|
(OMIM)
|
Sternal deformity |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Portal cirrhosis |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Floppy ears |
|
|
|
|
2 / 7739
|