|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
4
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
5
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
6
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
8
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|
|
9
|
(OMIM)
|
Coenzyme Q10 deficiency |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Decreased respiratory complex II+III activity |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
12
|
(OMIM)
|
Bilateral signals in the basal ganglia |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Leigh syndrome |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|