1
|
(HPO:0000012)
|
Urinary urgency |
|
|
|
|
35 / 7739
|
2
|
(HPO:0000020)
|
Urinary incontinence |
Occasional [HPO:probinson]
|
|
|
|
75 / 7739
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
4
|
(HPO:0000544)
|
External ophthalmoplegia |
Rare [HPO:probinson]
|
|
|
|
40 / 7739
|
5
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
6
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
7
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
8
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
10
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
12
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
14
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
15
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
16
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
17
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
18
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
19
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
20
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
21
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
22
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
23
|
(HPO:0006978)
|
Dysmyelinating leukodystrophy |
|
|
|
|
2 / 7739
|
24
|
(HPO:0011448)
|
Ankle clonus |
Occasional [HPO:probinson]
|
|
|
|
31 / 7739
|
25
|
(MedDRA:10021639)
|
Incontinence |
|
|
|
|
11 / 7739
|
26
|
(OMIM)
|
Spasticity, primarily lower limbs, but upper limbs may be involved |
|
|
|
|
1 / 7739
|
27
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
28
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
29
|
(OMIM)
|
Brainstem atrophy |
|
|
|
|
5 / 7739
|
30
|
(OMIM)
|
Leukodystrophy, dysmyelinating |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
White matter hyperintensities in T2 imaging |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Iron deposition in the globus pallidus (variable) |
|
|
|
|
1 / 7739
|
33
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
34
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
35
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
36
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|