|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000473)
|
Torticollis |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
2/3 [HPO:probinson]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0002463)
|
Language impairment |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0200134)
|
Epileptic encephalopathy |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0002544)
|
Retrocollis |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
18
|
(OMIM)
|
Normal brain MRI or CT scan |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Behavioral abnormalities |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|