|
1
|
(HPO:0000602)
|
Ophthalmoplegia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
21888047
|
IBIS
|
56 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
21827899
|
IBIS
|
198 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
24816431
|
IBIS
|
160 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
21888047
|
IBIS
|
539 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
21888047
|
IBIS
|
413 / 7739
|
|
6
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
24816431
|
IBIS
|
129 / 7739
|
|
7
|
(HPO:0000648)
|
Optic atrophy |
Very frequent [Orphanet]
|
|
21888047
|
IBIS
|
238 / 7739
|
|
8
|
(HPO:0000639)
|
Nystagmus |
|
|
22928142
|
IBIS
|
555 / 7739
|
|
9
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
21888047
|
IBIS
|
48 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
24816431
|
IBIS
|
1089 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
21888047
|
IBIS
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
24816431
|
IBIS
|
859 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
18775955
|
IBIS
|
197 / 7739
|
|
14
|
(HPO:0001328)
|
Specific learning disability |
|
|
8133312
|
IBIS
|
114 / 7739
|
|
15
|
(HPO:0002133)
|
Status epilepticus |
|
|
8133312
|
IBIS
|
59 / 7739
|
|
16
|
(HPO:0002305)
|
Athetosis |
|
|
21888047
|
IBIS
|
31 / 7739
|
|
17
|
(HPO:0002312)
|
Clumsiness |
|
|
8133312
|
IBIS
|
28 / 7739
|
|
18
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
22928142
|
IBIS
|
158 / 7739
|
|
19
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
21888047
|
IBIS
|
26 / 7739
|
|
20
|
(HPO:0006957)
|
Loss of ability to walk |
|
|
24816431
|
IBIS
|
7 / 7739
|
|
21
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
18775955
|
IBIS
|
42 / 7739
|
|
22
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
22928142
|
IBIS
|
79 / 7739
|
|
23
|
(MedDRA:10059396)
|
Mitochondrial DNA depletion |
|
|
18775955
|
IBIS
|
5 / 7739
|
|
24
|
(OMIM)
|
Brainstem atrophy |
|
|
18775955
|
IBIS
|
5 / 7739
|
|
25
|
(OMIM)
|
Mitochondrial DNA depletion in brain tissue |
|
|
18775955
|
IBIS
|
1 / 7739
|
|
26
|
(OMIM)
|
Decreased mitochondrial respiratory chain complex activity |
|
|
18775955
|
IBIS
|
2 / 7739
|
|
27
|
(HPO:0000134)
|
Female hypogonadism |
|
|
18775955
|
IBIS
|
5 / 7739
|
|
28
|
(HPO:0006827)
|
Atrophy of the spinal cord |
|
|
18775955
|
IBIS
|
5 / 7739
|
|
29
|
(HPO:0200125)
|
Mitochondrial respiratory chain defects |
|
|
18775955
|
IBIS
|
6 / 7739
|
|
30
|
(HPO:0001250)
|
Seizures |
|
|
21827899
|
IBIS
|
1245 / 7739
|
|
31
|
(HPO:0001271)
|
Polyneuropathy |
|
|
21402391
|
IBIS
|
56 / 7739
|