1
|
(HPO:0000369)
|
Low-set ears |
|
|
15505824
|
IBIS
|
372 / 7739
|
2
|
(HPO:0000969)
|
Edema |
|
|
15505824
|
IBIS
|
117 / 7739
|
3
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
15505824
|
IBIS
|
180 / 7739
|
4
|
(HPO:0001254)
|
Lethargy |
|
|
15505824
|
IBIS
|
104 / 7739
|
5
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
15505824
|
IBIS
|
142 / 7739
|
6
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
15505824
|
IBIS
|
101 / 7739
|
7
|
(HPO:0001518)
|
Small for gestational age |
|
|
15505824
|
IBIS
|
107 / 7739
|
8
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
15505824
|
IBIS
|
228 / 7739
|
9
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
15505824
|
IBIS
|
169 / 7739
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
15505824
|
IBIS
|
253 / 7739
|
11
|
(HPO:0002151)
|
Increased serum lactate |
|
|
15505824
|
IBIS
|
92 / 7739
|
12
|
(HPO:0002375)
|
Hypokinesia |
|
|
15505824
|
IBIS
|
25 / 7739
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
15505824
|
IBIS
|
158 / 7739
|
14
|
(HPO:0003128)
|
Lactic acidosis |
|
|
15505824
|
IBIS
|
116 / 7739
|
15
|
(HPO:0005989)
|
Redundant neck skin |
|
|
15505824
|
IBIS
|
40 / 7739
|
16
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
15505824
|
IBIS
|
153 / 7739
|
17
|
(HPO:0011968)
|
Feeding difficulties |
|
|
15505824
|
IBIS
|
240 / 7739
|
18
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
15505824
|
IBIS
|
153 / 7739
|
19
|
(OMIM)
|
Edema, nonpitting |
|
|
15505824
|
IBIS
|
3 / 7739
|
20
|
(OMIM)
|
Lethargy, neonatal |
|
|
15505824
|
IBIS
|
1 / 7739
|
21
|
(OMIM)
|
Decreased activity of mitochondrial respiratory complexes I, II+III, IV, and V |
|
|
15505824
|
IBIS
|
1 / 7739
|
22
|
(OMIM)
|
Normal complex II activity |
|
|
15505824
|
IBIS
|
1 / 7739
|
23
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
15505824
|
IBIS
|
35 / 7739
|
24
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
15505824
|
IBIS
|
31 / 7739
|
25
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
15505824
|
IBIS
|
990 / 7739
|
26
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
|
|
15505824
|
IBIS
|
10 / 7739
|