|
1
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
10
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
11
|
(OMIM)
|
Delayed ambulation |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Delayed adaptive hand use |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Poor language |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
15
|
(OMIM)
|
Impulsive behavior |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
19
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
20
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
|
23
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
24
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|