|
1
|
(HPO:0001254)
|
Lethargy |
|
|
23022099
|
IBIS
|
104 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
23022099
|
IBIS
|
208 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
23022099
|
IBIS
|
198 / 7739
|
|
4
|
(HPO:0001302)
|
Pachygyria |
|
|
18835491
|
IBIS
|
60 / 7739
|
|
5
|
(HPO:0001308)
|
Tongue fasciculations |
rare [HPO:skoehler]
|
|
23022099
|
IBIS
|
18 / 7739
|
|
6
|
(HPO:0001336)
|
Myoclonus |
rare [HPO:skoehler]
|
|
23022099
|
IBIS
|
115 / 7739
|
|
7
|
(HPO:0002151)
|
Increased serum lactate |
|
|
18835491
|
IBIS
|
92 / 7739
|
|
8
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
18835491
|
IBIS
|
28 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
23022099
|
IBIS
|
116 / 7739
|
|
10
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
18835491
|
IBIS
|
21 / 7739
|
|
11
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
23022099
|
IBIS
|
29 / 7739
|
|
12
|
(HPO:0009830)
|
Peripheral neuropathy |
rare [HPO:skoehler]
|
|
23022099
|
IBIS
|
206 / 7739
|
|
13
|
(OMIM)
|
Respiratory insufficiency requiring mechanical ventilation (1 family) |
|
|
23022099
|
IBIS
|
1 / 7739
|
|
14
|
(OMIM)
|
Equinus foot deformities |
|
|
18835491
|
IBIS
|
1 / 7739
|
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
23022099
|
IBIS
|
990 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
23022099
|
IBIS
|
482 / 7739
|
|
17
|
(OMIM)
|
Floppiness |
|
|
23022099
|
IBIS
|
1 / 7739
|
|
18
|
(OMIM)
|
Little spontaneous limb movement |
|
|
23022099
|
IBIS
|
1 / 7739
|
|
19
|
(OMIM)
|
Prominent sulci |
|
|
18835491
|
IBIS
|
1 / 7739
|
|
20
|
(OMIM)
|
Sural nerve biopsy shows lack of myelinated fibers (1 patient) |
|
|
18835491
|
IBIS
|
1 / 7739
|
|
21
|
(HPO:0001522)
|
Death in infancy |
|
|
23022099
|
IBIS
|
275 / 7739
|
|
22
|
(HPO:0003198)
|
Myopathy |
|
|
23022099
|
IBIS
|
151 / 7739
|
|
23
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
18835491
|
IBIS
|
96 / 7739
|
|
24
|
(HPO:0007239)
|
Congenital encephalopathy |
|
|
23022099
|
IBIS
|
2 / 7739
|
|
25
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
23022099
|
IBIS
|
31 / 7739
|
|
26
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
23022099
|
IBIS
|
35 / 7739
|
|
27
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
|
|
23022099
|
IBIS
|
10 / 7739
|
|
28
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
23022099
|
IBIS
|
34 / 7739
|
|
29
|
(HPO:0002878)
|
Respiratory failure |
|
|
23022099
|
IBIS
|
57 / 7739
|
|
30
|
(HPO:0002922)
|
Increased CSF protein |
|
|
18835491
|
IBIS
|
27 / 7739
|
|
31
|
(HPO:0002353)
|
EEG abnormality |
|
|
18835491
|
IBIS
|
188 / 7739
|
|
32
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
18835491
|
IBIS
|
16 / 7739
|
|
33
|
(HPO:0003819)
|
Death in childhood |
|
|
23022099
|
IBIS
|
42 / 7739
|
|
34
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
26238252
|
IBIS
|
22 / 7739
|
|
35
|
(HPO:0001072)
|
Thickened skin |
|
|
26238252
|
IBIS
|
87 / 7739
|