|
1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
5
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
8
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
10
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
11
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
|
|
308 / 7739
|
|
12
|
(HPO:0002300)
|
Mutism |
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0002340)
|
Caudate atrophy |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0002607)
|
Bowel incontinence |
|
|
|
|
33 / 7739
|
|
16
|
(HPO:0006913)
|
Frontal cortical atrophy |
|
|
|
|
2 / 7739
|
|
17
|
(MedDRA:10021639)
|
Incontinence |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
19
|
(OMIM)
|
Speech disturbance |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Frontal cortical atophy |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|