|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
7
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
|
8
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
13
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
14
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
18
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
19
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
20
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
21
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
22
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
|
|
308 / 7739
|
|
23
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
24
|
(HPO:0002190)
|
Choroid plexus cyst |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
26
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
27
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
28
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
29
|
(HPO:0007620)
|
Cutaneous leiomyoma |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0100954)
|
Open operculum |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Optic pallor |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10016642)
|
Fibrosis |
|
|
|
|
9 / 7739
|
|
33
|
(OMIM)
|
Iron deposition |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Abnormal swollen mitochondria with flat, haphazardly arranged cristae |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
36
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
37
|
(OMIM)
|
Decreased muscle bulk |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
No language development |
|
|
|
|
3 / 7739
|
|
39
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
40
|
(OMIM)
|
Most patients do not achieve independent sitting or walking |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Ventricular enlargement |
|
|
|
|
4 / 7739
|
|
42
|
(OMIM)
|
Decreased white matter volume |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Angulation of the frontal horns |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Small brainstem |
|
|
|
|
4 / 7739
|
|
45
|
(OMIM)
|
Polycythemia, neonatal |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Coagulopathy in those with liver failure |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Pyruvic acidemia |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Fumaric aciduria |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Fumarase activity (mitochondrial and cytosolic) is decreased |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Increased urinary citric acid cycle intermediates |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Increased urinary fumaric acid |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Increased urinary malic acid |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Increased urinary succinic acid |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Hyperbilirubinemia in those with liver failure |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
56
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|