1
|
(HPO:0000012)
|
Urinary urgency |
rare [HPO:skoehler]
|
|
|
|
35 / 7739
|
2
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
3
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
4
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
7
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
8
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
9
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
10
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
11
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
12
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
14
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
15
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
17
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
18
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
19
|
(HPO:0100660)
|
Dyskinesia |
|
|
|
|
19 / 7739
|
20
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
21
|
(OMIM)
|
Saccadic pursuit |
|
|
|
|
7 / 7739
|
22
|
(OMIM)
|
Upper limb involvement |
|
|
|
|
4 / 7739
|
23
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
24
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
25
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
26
|
(OMIM)
|
White matter hyperintensities |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Axonal sensorimotor neuropathy |
|
|
|
|
6 / 7739
|
28
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
29
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
30
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
31
|
(OMIM)
|
Decreased testosterone |
|
|
|
|
2 / 7739
|
32
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
33
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
34
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
35
|
(HPO:0040083)
|
Toe walking |
|
|
|
|
15 / 7739
|
36
|
(HPO:0040171)
|
Decreased serum testosterone level |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|