|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
10
|
(HPO:0003487)
|
Babinski sign |
variable [HPO:skoehler]
|
|
|
|
179 / 7739
|
|
11
|
(HPO:0007335)
|
Recurrent encephalopathy |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Hypotonia, mild |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Encephalopathic attacks, episodic, associated with infection |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Attacks characterized by lethargy, incoordination, loss of motor skills |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Residual ataxia |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|