|
1
|
(HPO:0002415)
|
Leukodystrophy |
|
|
1492653
|
IBIS
|
30 / 7739
|
|
2
|
(HPO:0012128)
|
Basal ganglia necrosis |
|
|
1492653
|
IBIS
|
3 / 7739
|
|
3
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
1492653
|
IBIS
|
73 / 7739
|
|
4
|
(HPO:0008314)
|
Decreased activity of mitochondrial complex II |
|
|
1492653
|
IBIS
|
7 / 7739
|
|
5
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
7625545
|
IBIS
|
31 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
|
|
7625545
|
IBIS
|
301 / 7739
|
|
7
|
(HPO:0002013)
|
Vomiting |
|
|
7625545
|
IBIS
|
191 / 7739
|
|
8
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
7625545
|
IBIS
|
26 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
7625545
|
IBIS
|
853 / 7739
|
|
10
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
7625545
|
IBIS
|
54 / 7739
|
|
11
|
(HPO:0003128)
|
Lactic acidosis |
|
|
7625545
|
IBIS
|
116 / 7739
|
|
12
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
7625545
|
IBIS
|
253 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
7625545
|
IBIS
|
197 / 7739
|
|
14
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
7625545
|
IBIS
|
9 / 7739
|
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
17209980
|
IBIS
|
990 / 7739
|
|
16
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
7625545
|
IBIS
|
34 / 7739
|