|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
5
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
6
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
11
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
12
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
13
|
(OMIM)
|
Mental retardation, mild-moderate |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|