|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
3
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
6
|
(HPO:0000237)
|
Small anterior fontanelle |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
8
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
9
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
12
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
17
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
18
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
19
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
20
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
23
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
24
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
25
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
|
26
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
27
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
28
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
29
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
31
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
32
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
33
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
34
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
35
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
37
|
(HPO:0006143)
|
Abnormal finger flexion creases |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
39
|
(HPO:0006434)
|
Hypoplasia of proximal radius |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0006442)
|
Hypoplasia of proximal fibula |
|
|
|
|
2 / 7739
|
|
41
|
(HPO:0007048)
|
Large basal ganglia |
|
|
|
|
2 / 7739
|
|
42
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
43
|
(HPO:0010583)
|
Ivory epiphyses |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Average birth weight 1540g |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
46
|
(OMIM)
|
Low-set, malformed ears |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Absence of earlobe |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Relatively large eyes |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Class II malocclusion |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
51
|
(OMIM)
|
Arachnoidal cyst |
|
|
|
|
2 / 7739
|
|
52
|
(OMIM)
|
Increased sister chromatid exchange |
|
|
|
|
1 / 7739
|