1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
24954637
|
IBIS
|
238 / 7739
|
3
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
5
|
(HPO:0001317)
|
Abnormality of the cerebellum |
rare [HPO:skoehler]
|
|
|
|
36 / 7739
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
7
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
8
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
9
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
|
|
26 / 7739
|
10
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
11
|
(HPO:0006858)
|
Impaired distal proprioception |
|
|
|
|
4 / 7739
|
12
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
13
|
(HPO:0010550)
|
Paraplegia |
|
|
|
|
10 / 7739
|
14
|
(OMIM)
|
Saccadic pursuit |
|
|
|
|
7 / 7739
|
15
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
16
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
17
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
18
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
19
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
20
|
(OMIM)
|
Upper limb involvement may occur |
|
|
|
|
2 / 7739
|
21
|
(OMIM)
|
White matter changes |
|
|
24954637
|
IBIS
|
7 / 7739
|
22
|
(OMIM)
|
Decreased proprioception in the lower limbs |
|
|
|
|
2 / 7739
|
23
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
24
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
24954637
|
IBIS
|
73 / 7739
|
25
|
(HPO:0001251)
|
Ataxia |
|
|
24954637
|
IBIS
|
413 / 7739
|