|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
7
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
9
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
13
|
(HPO:0001581)
|
Recurrent skin infections |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
15
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
16
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
17
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
19
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
20
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
21
|
(HPO:0012311)
|
Monocytosis |
|
|
|
|
10 / 7739
|
|
22
|
(OMIM)
|
Narrow ear lobes |
|
|
|
|
1 / 7739
|
|
23
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
24
|
(OMIM)
|
Interhemispheric cyst |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Abnormally large monocytes with vacuoles |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Monocytes show impaired motility |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Increased peripheral blood monocytes |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
29
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|