|
1
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
5
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
6
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
7
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0000939)
|
Osteoporosis |
rare [HPO:skoehler]
|
|
|
|
129 / 7739
|
|
11
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
12
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
|
13
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
15
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
16
|
(HPO:0001537)
|
Umbilical hernia |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
|
17
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
18
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
23
|
(HPO:0008064)
|
Ichthyosis |
rare [HPO:skoehler]
|
|
|
|
108 / 7739
|
|
24
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
25
|
(HPO:0000068)
|
Urethral atresia |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0008661)
|
Urethral stenosis |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
27
|
(HPO:0100540)
|
Palpebral edema |
|
|
|
|
31 / 7739
|
|
28
|
(OMIM)
|
Droopy eyelids |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
30
|
(OMIM)
|
Everted lips |
|
|
|
|
3 / 7739
|
|
31
|
(OMIM)
|
Irregular dentition |
|
|
|
|
6 / 7739
|
|
32
|
(OMIM)
|
Mild aortic dilatation (rare) |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
34
|
(OMIM)
|
Soft, redundant skin (especially facial) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Multiple pigmented moles |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Receding anterior hairline |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Normal to mildly delayed development |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
40
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
rare [HPO:skoehler]
|
|
|
|
48 / 7739
|
|
41
|
(HPO:0000954)
|
Single transverse palmar crease |
rare [HPO:skoehler]
|
|
|
|
162 / 7739
|
|
42
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
43
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
44
|
(HPO:0002110)
|
Bronchiectasis |
rare [HPO:skoehler]
|
|
|
|
73 / 7739
|
|
45
|
(HPO:0040079)
|
Irregular dentition |
|
|
|
|
7 / 7739
|