|
1
|
(HPO:0001251)
|
Ataxia |
Very frequent [IBIS]
|
|
26380172
|
IBIS
|
413 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
Very frequent [IBIS]
|
|
26380172
|
IBIS
|
238 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
26380172
|
IBIS
|
555 / 7739
|
|
4
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [IBIS]
|
|
26380172
|
IBIS
|
116 / 7739
|
|
5
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [IBIS]
|
|
26380172
|
IBIS
|
71 / 7739
|
|
6
|
(HPO:0002313)
|
Spastic paraparesis |
Very frequent [IBIS]
|
|
26380172
|
IBIS
|
33 / 7739
|
|
7
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [IBIS]
|
|
26380172
|
IBIS
|
206 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [IBIS]
|
|
26380172
|
IBIS
|
853 / 7739
|
|
9
|
(HPO:0002019)
|
Constipation |
Frequent [IBIS]
|
50% (n=6)
|
25012220
|
IBIS
|
194 / 7739
|
|
10
|
(HPO:0002572)
|
Episodic vomiting |
Frequent [IBIS]
|
33% (n=6)
|
25012220
|
IBIS
|
12 / 7739
|
|
11
|
(HPO:0002579)
|
Gastrointestinal dysmotility |
Occasional [IBIS]
|
17% (n=6)
|
25012220
|
IBIS
|
11 / 7739
|
|
12
|
(HPO:0006855)
|
Cerebellar vermis atrophy |
Occasional [IBIS]
|
17% (n=6)
|
25012220
|
IBIS
|
8 / 7739
|
|
13
|
(HPO:0006970)
|
Periventricular leukomalacia |
Occasional [IBIS]
|
17% (n=6)
|
25012220
|
IBIS
|
7 / 7739
|
|
14
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
25012220
|
IBIS
|
272 / 7739
|
|
15
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
26380172
|
IBIS
|
576 / 7739
|
|
16
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
26380172
|
IBIS
|
327 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
26380172
|
IBIS
|
1089 / 7739
|
|
18
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
25146916
|
IBIS
|
197 / 7739
|
|
19
|
(HPO:0001288)
|
Gait disturbance |
|
|
26380172
|
IBIS
|
318 / 7739
|
|
20
|
(HPO:0001347)
|
Hyperreflexia |
|
|
26380172
|
IBIS
|
363 / 7739
|
|
21
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
11433166
|
IBIS
|
27 / 7739
|
|
22
|
(HPO:0002191)
|
Progressive spasticity |
|
|
11433166
|
IBIS
|
12 / 7739
|
|
23
|
(HPO:0003089)
|
Hamstring contractures |
|
|
11433166
|
IBIS
|
2 / 7739
|
|
24
|
(HPO:0003487)
|
Babinski sign |
|
|
26380172
|
IBIS
|
179 / 7739
|
|
25
|
(HPO:0006366)
|
Adductor longus contractures |
|
|
11433166
|
IBIS
|
1 / 7739
|
|
26
|
(HPO:0005750)
|
Contractures of the joints of the lower limbs |
|
|
11433166
|
IBIS
|
5 / 7739
|
|
27
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
25012220
|
IBIS
|
27 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
25146916
|
IBIS
|
949 / 7739
|
|
29
|
(HPO:0001328)
|
Specific learning disability |
|
|
26380172
|
IBIS
|
114 / 7739
|
|
30
|
(OMIM)
|
Impaired mitochondrial translation |
|
|
26380172
|
IBIS
|
4 / 7739
|
|
31
|
(HPO:0000505)
|
Visual impairment |
|
|
26380172
|
IBIS
|
297 / 7739
|
|
32
|
(HPO:0030532)
|
Visual acuity test abnormality |
|
|
26380172
|
IBIS
|
4 / 7739
|
|
33
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
26380172
|
IBIS
|
97 / 7739
|
|
34
|
(HPO:0000316)
|
Hypertelorism |
|
|
26380172
|
IBIS
|
644 / 7739
|
|
35
|
(HPO:0001257)
|
Spasticity |
|
|
26380172
|
IBIS
|
251 / 7739
|
|
36
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
26380172
|
IBIS
|
12 / 7739
|
|
37
|
(HPO:0009053)
|
Distal lower limb muscle weakness |
|
|
26380172
|
IBIS
|
13 / 7739
|
|
38
|
(HPO:0002015)
|
Dysphagia |
|
|
25012220
|
IBIS
|
301 / 7739
|
|
39
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
25012220
|
IBIS
|
31 / 7739
|
|
40
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
25012220
|
IBIS
|
34 / 7739
|