|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
6
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
16
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
17
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
18
|
(HPO:0001414)
|
Microvesicular hepatic steatosis |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
21
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
22
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
23
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
|
|
|
|
27 / 7739
|
|
24
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
25
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
26
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
27
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
28
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
29
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
30
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
31
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
|
|
27 / 7739
|
|
32
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
|
|
19 / 7739
|
|
33
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
34
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
35
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
|
|
20 / 7739
|
|
36
|
(HPO:0006558)
|
Decreased mitochondrial complex III activity in liver tissue |
|
|
|
|
3 / 7739
|
|
37
|
(HPO:0006789)
|
Mitochondrial encephalopathy |
|
|
|
|
5 / 7739
|
|
38
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
39
|
(HPO:0030151)
|
Cholangitis |
|
|
|
|
10 / 7739
|