Symptom Information: Sort according to HPO 

1
 (HPO:0001332) Dystonia Very frequent [Orphanet] 197 / 7739
2
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
6
 (HPO:0002383) Encephalitis Very frequent [Orphanet] 41 / 7739
7
 (HPO:0000496) Abnormality of eye movement Occasional [Orphanet] 79 / 7739
8
 (HPO:0001999) Abnormal facial shape Frequent [Orphanet] 169 / 7739
9
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
10
 (HPO:0002063) Rigidity 92 / 7739
11
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
12
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
13
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
14
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
15
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
16
 (HPO:0001266) Choreoathetosis 57 / 7739
17
 (HPO:0002071) Abnormality of extrapyramidal motor function Frequent [Orphanet] 76 / 7739
18
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
19
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
20
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
21
 (HPO:0001250) Seizures Occasional [Orphanet] rare [HPO:skoehler] 1245 / 7739
22
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
23
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
24
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 40 / 7739
25
 (HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
26
 (HPO:0001264) Spastic diplegia 24 / 7739
27
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
28
 (HPO:0001508) Failure to thrive 454 / 7739
29
 (HPO:0001942) Metabolic acidosis 81 / 7739
30
 (HPO:0001943) Hypoglycemia 131 / 7739
31
 (HPO:0001946) Ketosis 17 / 7739
32
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
33
 (HPO:0002179) Opisthotonus 35 / 7739
34
 (HPO:0002240) Hepatomegaly 467 / 7739
35
 (HPO:0002919) Ketonuria 18 / 7739
36
 (HPO:0003150) Glutaric aciduria 7 / 7739
37
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
38
 (HPO:0006873) Symmetrical progressive peripheral demyelination 1 / 7739
39
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739
40
 (HPO:0007105) Infantile encephalopathy 5 / 7739
41
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
42
 (HPO:0012448) Delayed myelination 51 / 7739
43
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
44
 (HPO:0010547) Muscle flaccidity 466 / 7739
45
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
46
 (OMIM) Frontotemporal atrophy 3 / 7739
47
 (OMIM) Widening of cortical sulci 1 / 7739
48
 (OMIM) Symmetrical progressive demyelination 1 / 7739
49
 (OMIM) Hypodensity of lenticular nuclei 1 / 7739
50
 (OMIM) Hypodensity of caudate 1 / 7739
51
 (OMIM) Striatal necrosis 1 / 7739
52
 (OMIM) Glutaryl-CoA dehydrogenase deficiency 1 / 7739
53
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
54
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
55
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
57
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
58
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
59
 (HPO:0003530) Glutaric acidemia 2 / 7739