1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
3
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
5
|
(HPO:0000243)
|
Trigonocephaly |
|
|
|
|
40 / 7739
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
7
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
10
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
13
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
15
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
16
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
20
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
21
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
22
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
23
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
24
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
25
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
26
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
27
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
29
|
(HPO:0007930)
|
Prominent epicanthal folds |
|
|
|
|
4 / 7739
|
30
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
31
|
(OMIM)
|
Height in childhood <5th percentile |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Weight in childhood <5th percentile |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Metopic ridging |
|
|
|
|
1 / 7739
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
36
|
(OMIM)
|
Focal pachygyria |
|
|
|
|
2 / 7739
|
37
|
(OMIM)
|
chromosome inversion - inv2(p12q14) in 2 patients |
|
|
|
|
1 / 7739
|