|
1
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
4
|
(HPO:0002135)
|
Basal ganglia calcification |
rare [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
8
|
(MedDRA:10068872)
|
Toe walking |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Upper limb hyperreflexia (in some patients) |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Dystonic posturing |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0100543)
|
Cognitive impairment |
rare [HPO:skoehler]
|
|
|
|
230 / 7739
|
|
12
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
13
|
(OMIM)
|
Axonal neuropathy, subclinical |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0040083)
|
Toe walking |
|
|
|
|
15 / 7739
|