|
1
|
(HPO:0001257)
|
Spasticity |
Very frequent [IBIS]
|
|
17384640
|
IBIS
|
251 / 7739
|
|
2
|
(HPO:0002352)
|
Leukoencephalopathy |
Very frequent [IBIS]
|
|
17384640
|
IBIS
|
32 / 7739
|
|
3
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
Very frequent [IBIS]
|
|
17384640
|
IBIS
|
27 / 7739
|
|
4
|
(HPO:0007006)
|
Dorsal column degeneration |
Very frequent [IBIS]
|
|
17384640
|
IBIS
|
2 / 7739
|
|
5
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
Very frequent [IBIS]
|
|
17384640
|
IBIS
|
73 / 7739
|
|
6
|
(HPO:0012501)
|
Abnormality of the brainstem white matter |
Very frequent [IBIS]
|
|
17384640
|
IBIS
|
1 / 7739
|
|
7
|
(HPO:0002143)
|
Abnormality of the spinal cord |
Very frequent [IBIS]
|
|
17384640
|
IBIS
|
4 / 7739
|
|
8
|
(HPO:0002490)
|
Increased CSF lactate |
Frequent [IBIS]
|
|
17384640
|
IBIS
|
28 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
|
|
23643384
|
IBIS
|
555 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
17384640
|
IBIS
|
413 / 7739
|
|
11
|
(HPO:0100543)
|
Cognitive impairment |
rare [HPO:skoehler]
|
|
17384640
|
IBIS
|
230 / 7739
|
|
12
|
(HPO:0003677)
|
Slow progression |
|
|
17384640
|
IBIS
|
134 / 7739
|
|
13
|
(HPO:0001268)
|
Mental deterioration |
|
|
17384640
|
IBIS
|
88 / 7739
|
|
14
|
(HPO:0002151)
|
Increased serum lactate |
|
|
21150073
|
IBIS
|
92 / 7739
|
|
15
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
23643384
|
IBIS
|
21 / 7739
|