|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
6
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
10
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
11
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
12
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
17
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
18
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
19
|
(HPO:0003422)
|
Vertebral segmentation defect |
|
|
|
|
95 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
22
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
23
|
(OMIM)
|
Dysmorphic features |
|
|
|
|
6 / 7739
|
|
24
|
(OMIM)
|
Lung hypoplasia in those with diaphragmatic hernia |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|