|
1
|
(HPO:0000020)
|
Urinary incontinence |
frequent [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
frequent [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0002019)
|
Constipation |
frequent [HPO:skoehler]
|
|
|
|
194 / 7739
|
|
9
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
3/3 [HPO:probinson]
|
|
|
|
161 / 7739
|
|
12
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
common [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0002936)
|
Distal sensory impairment |
frequent [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
16
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0000407)
|
Sensorineural hearing impairment |
frequent [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
18
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
19
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
21
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
22
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
23
|
(OMIM)
|
Hypomyelinating leukoencephalopathy |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|