|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
3
|
(HPO:0000072)
|
Hydroureter |
|
|
|
|
146 / 7739
|
|
4
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
6
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
7
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
8
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
9
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
11
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
12
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
14
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
16
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
17
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
18
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
19
|
(HPO:0000588)
|
Optic nerve coloboma |
|
|
|
|
27 / 7739
|
|
20
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
21
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
|
22
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
23
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
24
|
(HPO:0000690)
|
Agenesis of maxillary lateral incisor |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
26
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
27
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
28
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
29
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
30
|
(HPO:0001018)
|
Abnormal palmar dermatoglyphics |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
|
|
|
|
72 / 7739
|
|
32
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
33
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
34
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
35
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
36
|
(HPO:0001264)
|
Spastic diplegia |
|
|
|
|
24 / 7739
|
|
37
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
38
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
|
39
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
|
40
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
41
|
(HPO:0002035)
|
Rectal prolapse |
|
|
|
|
11 / 7739
|
|
42
|
(HPO:0002089)
|
Pulmonary hypoplasia |
rare [HPO:skoehler]
|
|
|
|
80 / 7739
|
|
43
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
|
44
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
45
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
46
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
|
|
|
|
127 / 7739
|
|
47
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
48
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
49
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
50
|
(HPO:0200021)
|
Down-sloping shoulders |
|
|
|
|
18 / 7739
|
|
51
|
(OMIM)
|
Colobomas of optic disk, choroid, ciliary body, and iris |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Double thumbs |
|
|
|
|
1 / 7739
|
|
53
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
54
|
(OMIM)
|
Agenesis of upper lateral incisors |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Irregular lower incisors |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
|
57
|
(OMIM)
|
Long cylindrical thorax |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Simple anteverted ears |
|
|
|
|
1 / 7739
|
|
59
|
(HPO:0000729)
|
Autistic behavior |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
60
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
61
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
62
|
(HPO:0020006)
|
Ciliary body coloboma |
|
|
|
|
1 / 7739
|
|
63
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|