|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
3
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
4
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
5
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
7
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
8
|
(OMIM)
|
Hypokinesia in infancy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Nocturnal seizures |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Episodic generalized skeletal muscle contractions |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Hyperactive brainstem reflexes (head retraction, palmomental, snout) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
EMG shows continuous motor unit firing at rest |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
EEG during episodes shows desynchronization |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Alert affect |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Tense affect |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Frightened expression |
|
|
|
|
1 / 7739
|