|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
4
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
5
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
7
|
(HPO:0001092)
|
Absent lacrimal punctum |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
10
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
12
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
14
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0007900)
|
Hypoplastic lacrimal duct |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0003057)
|
Tetraamelia |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Susceptible to hyperthermia |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|