1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000040)
|
Long penis |
|
|
|
|
17 / 7739
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
4
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
5
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
6
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
7
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
8
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
9
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
10
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
11
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
12
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
13
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
14
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
15
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
16
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
17
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
18
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
19
|
(HPO:0000387)
|
Absent earlobe |
|
|
|
|
5 / 7739
|
20
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
21
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
22
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
23
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
24
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
25
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
26
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
27
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
28
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
29
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
30
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
31
|
(HPO:0001239)
|
Wrist flexion contracture |
|
|
|
|
13 / 7739
|
32
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
33
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
34
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
35
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
36
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
37
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
38
|
(HPO:0001747)
|
Accessory spleen |
|
|
|
|
8 / 7739
|
39
|
(HPO:0001772)
|
Talipes equinovalgus |
|
|
|
|
7 / 7739
|
40
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
41
|
(HPO:0003616)
|
Premature separation of centromeric heterochromatin |
|
|
|
|
3 / 7739
|
42
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
43
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|
44
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
45
|
(HPO:0007330)
|
Frontal encephalocele |
|
|
|
|
3 / 7739
|
46
|
(HPO:0007452)
|
Midface capillary hemangioma |
|
|
|
|
4 / 7739
|
47
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
48
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
49
|
(HPO:0008683)
|
Enlarged labia minora |
|
|
|
|
2 / 7739
|
50
|
(HPO:0008846)
|
Severe intrauterine growth retardation |
|
|
|
|
5 / 7739
|
51
|
(HPO:0009933)
|
Narrow naris |
|
|
|
|
16 / 7739
|
52
|
(OMIM)
|
Birth length less than 40cm |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Birth weight 1.5-2.2 kg |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Mild-severe postnatal growth deficiency |
|
|
|
|
1 / 7739
|
55
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
56
|
(OMIM)
|
Lid coloboma |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Nuchal cystic hygroma |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Rudimentary gallbladder |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Hypomelia (more severe in upper limbs) |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Tetraphocomelia |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Absence or reduction in length of humerus, radius, or ulna |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Absence or reduction in length of femur, tibia, or fibula |
|
|
|
|
1 / 7739
|
63
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
64
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
65
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
66
|
(OMIM)
|
Metacarpal fusion |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Reduction in number of toes |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Cafe au lait spots on trunk and extremities |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Silvery blonde scalp hair |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Normal karyotype |
|
|
|
|
5 / 7739
|
71
|
(OMIM)
|
Abnormal nuclear morphology |
|
|
|
|
1 / 7739
|