1
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
5
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
8
|
(HPO:0001583)
|
Rotary nystagmus |
|
|
|
|
7 / 7739
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
10
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
11
|
(HPO:0002191)
|
Progressive spasticity |
|
|
|
|
12 / 7739
|
12
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
13
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
14
|
(HPO:0002599)
|
Head titubation |
|
|
|
|
7 / 7739
|
15
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
16
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
17
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
18
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
19
|
(HPO:0007220)
|
Demyelinating motor neuropathy |
|
|
|
|
3 / 7739
|
20
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
21
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
22
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
23
|
(OMIM)
|
Poor head and trunk control in infancy |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Mental impairment, mild to moderate |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Leukodystrophy, hypomyelinating |
|
|
|
|
3 / 7739
|
26
|
(OMIM)
|
Loss of white matter |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
MRI shows diffuse white matter hyperintensities on T2-weighted imaging |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Peripheral neuropathy, mild (less common) |
|
|
|
|
1 / 7739
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
30
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
31
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
32
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
33
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
34
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|