|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
|
|
35 / 7739
|
|
6
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
15
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
16
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
17
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
18
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
19
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
20
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
21
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
22
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0002186)
|
Apraxia |
|
|
|
|
22 / 7739
|
|
24
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
25
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
26
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
27
|
(HPO:0002542)
|
Olivopontocerebellar atrophy |
|
|
|
|
11 / 7739
|
|
28
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
29
|
(HPO:0003487)
|
Babinski sign |
rare [HPO:skoehler]
|
|
|
|
179 / 7739
|
|
30
|
(OMIM)
|
Decreased mitochondrial complex III activity seen on muscle biopsy |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
|
32
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
33
|
(OMIM)
|
Cognitive regression |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Increased lactate in the brain |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Necrotic white matter lesions throughout the brain and brainstem |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Axonal degeneration |
|
|
|
|
7 / 7739
|
|
37
|
(OMIM)
|
Decreased mitochondrial complex III activity in muscle |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0040078)
|
Axonal degeneration |
|
|
|
|
10 / 7739
|