|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
9
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
10
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
12
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
14
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
15
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0012240)
|
Increased intramyocellular lipid droplets |
|
|
|
|
7 / 7739
|
|
17
|
(OMIM)
|
Distal muscle atrophy, affecting the lower limbs |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Distal muscle weakness, affecting the lower limbs |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Skeletal muscle biopsy shows misplaced mitochondria |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Large lipid droplets |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased mtDNA |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
23
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
24
|
(OMIM)
|
Axonal peripheral sensorimotor neuropathy |
|
|
|
|
3 / 7739
|
|
25
|
(OMIM)
|
Sural nerve biopsy shows chronic demyelinating/remyelinating process |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0002497)
|
Spastic ataxia |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
29
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|