|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
40% (n=5)
|
25051967
|
IBIS
|
990 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [IBIS]
|
|
25051967
|
IBIS
|
524 / 7739
|
|
3
|
(HPO:0003535)
|
3-Methylglutaconic aciduria |
Frequent [IBIS]
|
|
25051967
|
IBIS
|
10 / 7739
|
|
4
|
(IBIS)
|
Leigh-like lesions on brain magnetic resonance imaging (MRI) |
Frequent [IBIS]
|
|
25051967
|
IBIS
|
3 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
Frequent [IBIS]
|
|
25051967
|
IBIS
|
251 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
Frequent [IBIS]
|
|
25051967
|
IBIS
|
197 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
Frequent [IBIS]
|
|
25051967
|
IBIS
|
853 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
Frequent [IBIS]
|
|
24741715
|
IBIS
|
454 / 7739
|
|
9
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
Frequent [IBIS]
|
|
24741715
|
IBIS
|
77 / 7739
|
|
10
|
(HPO:0002904)
|
Hyperbilirubinemia |
Frequent [IBIS]
|
|
24741715
|
IBIS
|
32 / 7739
|
|
11
|
(HPO:0003344)
|
3-Methylglutaric aciduria |
Frequent [IBIS]
|
|
24741715
|
IBIS
|
6 / 7739
|
|
12
|
(MedDRA:10062938)
|
Mitochondrial hepatopathy |
Frequent [IBIS]
|
|
23918762
|
IBIS
|
2 / 7739
|
|
13
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
25051967
|
IBIS
|
165 / 7739
|
|
14
|
(HPO:0001270)
|
Motor delay |
|
|
25051967
|
IBIS
|
322 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
24741715
|
IBIS
|
1245 / 7739
|
|
16
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
24997715
|
IBIS
|
197 / 7739
|
|
17
|
(HPO:0001510)
|
Growth delay |
|
|
25051967
|
IBIS
|
295 / 7739
|
|
18
|
(HPO:0001943)
|
Hypoglycemia |
|
|
25051967
|
IBIS
|
131 / 7739
|
|
19
|
(HPO:0002376)
|
Developmental regression |
|
|
24997715
|
IBIS
|
74 / 7739
|
|
20
|
(HPO:0003128)
|
Lactic acidosis |
|
|
25051967
|
IBIS
|
116 / 7739
|
|
21
|
(HPO:0011968)
|
Feeding difficulties |
|
|
24997715
|
IBIS
|
240 / 7739
|
|
22
|
(HPO:0012444)
|
Brain atrophy |
|
|
24997715
|
IBIS
|
24 / 7739
|
|
23
|
(OMIM)
|
Degrading mitochondria |
|
|
22683713
|
IBIS
|
1 / 7739
|
|
24
|
(OMIM)
|
Leigh syndrome |
|
|
24741715
|
IBIS
|
7 / 7739
|
|
25
|
(OMIM)
|
Lesions in the basal ganglia |
|
|
25051967
|
IBIS
|
1 / 7739
|
|
26
|
(OMIM)
|
Defects in mitochondrial oxidative phosphorylation |
|
|
24741715
|
IBIS
|
1 / 7739
|
|
27
|
(OMIM)
|
Abnormal phospholipid profile |
|
|
24741715
|
IBIS
|
1 / 7739
|
|
28
|
(OMIM)
|
Abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio) |
|
|
24741715
|
IBIS
|
1 / 7739
|
|
29
|
(OMIM)
|
Abnormal cardiolipin subspecies composition |
|
|
24997715
|
IBIS
|
1 / 7739
|
|
30
|
(OMIM)
|
Intracellular accumulation of unesterified cholesterol |
|
|
22683713
|
IBIS
|
1 / 7739
|
|
31
|
(OMIM)
|
Decreased serum cholesterol |
|
|
24741715
|
IBIS
|
6 / 7739
|
|
32
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
25051967
|
IBIS
|
358 / 7739
|
|
33
|
(HPO:0001254)
|
Lethargy |
|
|
25051967
|
IBIS
|
104 / 7739
|
|
34
|
(HPO:0002033)
|
Poor suck |
|
|
25051967
|
IBIS
|
37 / 7739
|
|
35
|
(HPO:0002090)
|
Pneumonia |
|
|
25051967
|
IBIS
|
59 / 7739
|
|
36
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
25051967
|
IBIS
|
51 / 7739
|
|
37
|
(HPO:0006583)
|
Fatal liver failure in infancy |
|
|
24741715
|
IBIS
|
3 / 7739
|
|
38
|
(HPO:0001344)
|
Absent speech |
|
|
24741715
|
IBIS
|
57 / 7739
|
|
39
|
(HPO:0000648)
|
Optic atrophy |
|
|
24997715
|
IBIS
|
238 / 7739
|
|
40
|
(HPO:0001298)
|
Encephalopathy |
|
|
24997715
|
IBIS
|
72 / 7739
|
|
41
|
(HPO:0000252)
|
Microcephaly |
|
|
24997715
|
IBIS
|
832 / 7739
|
|
42
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
25051967
|
IBIS
|
197 / 7739
|
|
43
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
25051967
|
IBIS
|
57 / 7739
|
|
44
|
(MedDRA:10054859)
|
Myoclonic epilepsy |
|
|
24997715
|
IBIS
|
7 / 7739
|
|
45
|
(MedDRA:10061308)
|
Neonatal infection |
|
|
25051967
|
IBIS
|
2 / 7739
|
|
46
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
24741715
|
IBIS
|
19 / 7739
|
|
47
|
(HPO:0002151)
|
Increased serum lactate |
|
|
24741715
|
IBIS
|
92 / 7739
|