|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
4
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
6
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
7
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
8
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
9
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
12
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
13
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
14
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
15
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
16
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
17
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
18
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
20
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
21
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
22
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
23
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
24
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
25
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
26
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
27
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
28
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
29
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
30
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
31
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0001842)
|
Foot acroosteolysis |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0002566)
|
Intestinal malrotation |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
34
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
35
|
(HPO:0002688)
|
Absent frontal sinuses |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
37
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
38
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
39
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
|
40
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
41
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
42
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
|
43
|
(HPO:0005463)
|
Elongated sella turcica |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0006180)
|
Crowded carpal bones |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
46
|
(HPO:0008421)
|
Tall lumbar vertebral bodies |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0008462)
|
Cervical instability |
|
|
|
|
4 / 7739
|
|
48
|
(HPO:0009748)
|
Large earlobe |
|
|
|
|
27 / 7739
|
|
49
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
50
|
(OMIM)
|
Bathrocephaly |
|
|
|
|
1 / 7739
|
|
51
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
52
|
(OMIM)
|
Failure of suture ossification |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Thickened skull vault |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Progressive basilar impression |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Narrow disc space |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Long, bowed fibulae |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Serpentine fibulae |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Pseudoclubbing |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Short distal digits |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Curved nails |
|
|
|
|
2 / 7739
|
|
61
|
(OMIM)
|
Thick, straight hair |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
63
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
64
|
(HPO:0005758)
|
Basilar impression |
|
|
|
|
6 / 7739
|