|
1
|
(HPO:0001396)
|
Cholestasis |
Very frequent [IBIS]
Very frequent [Orphanet]
19/20 [HPO:probinson]
|
100% (n=17)
|
12215968
|
IBIS
|
136 / 7739
|
|
2
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [IBIS]
|
100% (n=17)
|
12215968
|
IBIS
|
358 / 7739
|
|
3
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [IBIS]
Very frequent [Orphanet]
|
100% (n=17)
|
12215968
|
IBIS
|
492 / 7739
|
|
4
|
(HPO:0003355)
|
Aminoaciduria |
Very frequent [IBIS]
20/20 [HPO:probinson]
|
100% (n=17)
|
12215968
|
IBIS
|
65 / 7739
|
|
5
|
(HPO:0003281)
|
Increased serum ferritin |
Very frequent [IBIS]
|
|
12215968
|
IBIS
|
32 / 7739
|
|
6
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
12215968
|
IBIS
|
45 / 7739
|
|
7
|
(HPO:0011031)
|
Abnormality of iron homeostasis |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
12215968
|
IBIS
|
16 / 7739
|
|
8
|
(HPO:0001522)
|
Death in infancy |
Very frequent [IBIS]
Frequent [Orphanet]
|
|
12215968
|
IBIS
|
275 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
|
12215968
|
IBIS
|
116 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
20580947
|
IBIS
|
539 / 7739
|
|
11
|
(HPO:0000124)
|
Renal tubular dysfunction |
Very frequent [Orphanet]
|
|
12215968
|
IBIS
|
46 / 7739
|
|
12
|
(HPO:0001394)
|
Cirrhosis |
Very frequent [Orphanet]
|
|
20580947
|
IBIS
|
102 / 7739
|
|
13
|
(HPO:0001319)
|
Neonatal hypotonia |
3/20 [HPO:probinson]
|
|
12215968
|
IBIS
|
101 / 7739
|
|
14
|
(HPO:0003452)
|
Increased serum iron |
|
|
12215968
|
IBIS
|
5 / 7739
|
|
15
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
12215968
|
IBIS
|
18 / 7739
|
|
16
|
(HPO:0004925)
|
Chronic lactic acidosis |
|
|
12215968
|
IBIS
|
3 / 7739
|
|
17
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
12215968
|
IBIS
|
22 / 7739
|
|
18
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
12215968
|
IBIS
|
34 / 7739
|
|
19
|
(HPO:0002151)
|
Increased serum lactate |
|
|
12215968
|
IBIS
|
92 / 7739
|
|
20
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
12215968
|
IBIS
|
990 / 7739
|
|
21
|
(HPO:0001298)
|
Encephalopathy |
|
|
12215968
|
IBIS
|
72 / 7739
|
|
22
|
(HPO:0001250)
|
Seizures |
|
|
12215968
|
IBIS
|
1245 / 7739
|
|
23
|
(OMIM)
|
Leigh syndrome |
|
|
12215968
|
IBIS
|
7 / 7739
|
|
24
|
(OMIM)
|
Hepatic hemosiderosis |
|
|
12215968
|
IBIS
|
2 / 7739
|
|
25
|
(HPO:0012463)
|
Elevated transferrin saturation |
|
|
12215968
|
IBIS
|
10 / 7739
|
|
26
|
(HPO:0001943)
|
Hypoglycemia |
|
|
22970607
|
IBIS
|
131 / 7739
|
|
27
|
(HPO:0040134)
|
Abnormal hepatic iron concentration |
|
|
12215968
|
IBIS
|
1 / 7739
|
|
28
|
(HPO:0003777)
|
Pili torti |
|
|
20580947
|
IBIS
|
24 / 7739
|
|
29
|
(OMIM)
|
Renal tubulopathy |
|
|
12215968
|
IBIS
|
4 / 7739
|