|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
12
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
13
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
14
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
|
|
15 / 7739
|
|
15
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
16
|
(OMIM)
|
Contractures, progressive, severe |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
18
|
(OMIM)
|
Upper limb spasticity, mild |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
20
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
21
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
22
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
23
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|