|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
5
|
(HPO:0000237)
|
Small anterior fontanelle |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
11
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
12
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
13
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
14
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
15
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
16
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
17
|
(HPO:0000890)
|
Long clavicles |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
19
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
21
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
24
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
25
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
26
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
27
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
28
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
29
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
30
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
31
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
32
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
33
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
|
34
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
|
35
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
36
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
37
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
38
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
39
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
40
|
(HPO:0003051)
|
Enlarged metaphyses |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
42
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
43
|
(HPO:0003865)
|
Bowed humerus |
|
|
|
|
5 / 7739
|
|
44
|
(HPO:0004616)
|
Cleft vertebral arch |
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
46
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
47
|
(HPO:0006400)
|
Absent knee epiphyses |
|
|
|
|
2 / 7739
|
|
48
|
(HPO:0007333)
|
Hypoplasia of the frontal lobes |
|
|
|
|
5 / 7739
|
|
49
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
50
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
51
|
(OMIM)
|
Large, fleshy nose |
|
|
|
|
1 / 7739
|
|
52
|
(MedDRA:10056528)
|
Neonatal cholestasis |
|
|
|
|
2 / 7739
|
|
53
|
(OMIM)
|
Focal medullary hypoplasia |
|
|
|
|
1 / 7739
|
|
54
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
55
|
(OMIM)
|
Steep skull base |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Horizontal iliac wings |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
|
58
|
(OMIM)
|
Shoulder contractures |
|
|
|
|
3 / 7739
|
|
59
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
60
|
(OMIM)
|
Bilateral transverse palmar creases |
|
|
|
|
4 / 7739
|
|
61
|
(OMIM)
|
Relatively large hands |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Relatively large feet |
|
|
|
|
1 / 7739
|