|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
23332916
|
IBIS
|
539 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
23332916
|
IBIS
|
454 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
23332917
|
IBIS
|
555 / 7739
|
|
4
|
(HPO:0000726)
|
Dementia |
rare [HPO:skoehler]
|
|
23332916
|
IBIS
|
131 / 7739
|
|
5
|
(HPO:0000789)
|
Infertility |
rare [HPO:skoehler]
|
|
23332916
|
IBIS
|
74 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
23332917
|
IBIS
|
329 / 7739
|
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
23332916
|
IBIS
|
197 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
23332917
|
IBIS
|
363 / 7739
|
|
9
|
(HPO:0001761)
|
Pes cavus |
|
|
23332917
|
IBIS
|
225 / 7739
|
|
10
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
23332916
|
IBIS
|
171 / 7739
|
|
11
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
23332916
|
IBIS
|
56 / 7739
|
|
12
|
(HPO:0002064)
|
Spastic gait |
|
|
23332916
|
IBIS
|
46 / 7739
|
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
20593214
|
IBIS
|
161 / 7739
|
|
14
|
(HPO:0002346)
|
Head tremor |
rare [HPO:skoehler]
|
|
23332917
|
IBIS
|
9 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
23332917
|
IBIS
|
705 / 7739
|
|
16
|
(HPO:0003487)
|
Babinski sign |
|
|
23332917
|
IBIS
|
179 / 7739
|
|
17
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
23332917
|
IBIS
|
15 / 7739
|
|
18
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
23332916
|
IBIS
|
61 / 7739
|
|
19
|
(HPO:0008003)
|
Jerky ocular pursuit movements |
|
|
23332917
|
IBIS
|
4 / 7739
|
|
20
|
(HPO:0011448)
|
Ankle clonus |
|
|
23332917
|
IBIS
|
31 / 7739
|
|
21
|
(HPO:0011449)
|
Knee clonus |
|
|
23332917
|
IBIS
|
10 / 7739
|
|
22
|
(HPO:0000519)
|
Congenital cataract |
|
|
23332916
|
IBIS
|
73 / 7739
|
|
23
|
(HPO:0008734)
|
Decreased testicular size |
|
|
23332916
|
IBIS
|
105 / 7739
|
|
24
|
(OMIM)
|
Abnormal sperm head (in some patients) |
|
|
23332916
|
IBIS
|
1 / 7739
|
|
25
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
23332916
|
IBIS
|
41 / 7739
|
|
26
|
(HPO:0001276)
|
Hypertonia |
|
|
23332917
|
IBIS
|
317 / 7739
|
|
27
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
23332916
|
IBIS
|
116 / 7739
|
|
28
|
(HPO:0001251)
|
Ataxia |
|
|
23332916
|
IBIS
|
413 / 7739
|
|
29
|
(HPO:0001268)
|
Mental deterioration |
|
|
23332916
|
IBIS
|
88 / 7739
|
|
30
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
23332916
|
IBIS
|
97 / 7739
|
|
31
|
(HPO:0003676)
|
Progressive disorder |
|
|
23332916
|
IBIS
|
148 / 7739
|
|
32
|
(HPO:0003677)
|
Slow progression |
|
|
23332916
|
IBIS
|
134 / 7739
|
|
33
|
(HPO:0001348)
|
Brisk reflexes |
|
|
23332916
|
IBIS
|
15 / 7739
|
|
34
|
(HPO:0000026)
|
Male hypogonadism |
|
|
23332916
|
IBIS
|
20 / 7739
|
|
35
|
(HPO:0100543)
|
Cognitive impairment |
|
|
23332916
|
IBIS
|
230 / 7739
|
|
36
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
23332916
|
IBIS
|
14 / 7739
|
|
37
|
(HPO:0002493)
|
Upper motor neuron dysfunction |
|
|
23332916
|
IBIS
|
5 / 7739
|
|
38
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
23332916
|
IBIS
|
17 / 7739
|
|
39
|
(HPO:0002311)
|
Incoordination |
|
|
23332917
|
IBIS
|
84 / 7739
|
|
40
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
23332917
|
IBIS
|
34 / 7739
|
|
41
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
23332917
|
IBIS
|
26 / 7739
|
|
42
|
(HPO:0002240)
|
Hepatomegaly |
|
|
23332917
|
IBIS
|
467 / 7739
|
|
43
|
(HPO:0001250)
|
Seizures |
|
|
20593214
|
IBIS
|
1245 / 7739
|
|
44
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
20593214
|
IBIS
|
15 / 7739
|
|
45
|
(HPO:0000486)
|
Strabismus |
|
|
20593214
|
IBIS
|
576 / 7739
|
|
46
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
20593214
|
IBIS
|
31 / 7739
|
|
47
|
(HPO:0007133)
|
Progressive peripheral neuropathy |
|
|
20593214
|
IBIS
|
4 / 7739
|
|
48
|
(HPO:0001288)
|
Gait disturbance |
|
|
20593214
|
IBIS
|
318 / 7739
|