|
1
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002121)
|
Absence seizures |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
4
|
(HPO:0002133)
|
Status epilepticus |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
5
|
(HPO:0011097)
|
Epileptic spasms |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0011147)
|
Typical absence seizures |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
Frequent [Orphanet]
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
Frequent [Orphanet]
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001328)
|
Specific learning disability |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0001269)
|
Hemiparesis |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0002301)
|
Hemiplegia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
15
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
17
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
18
|
(HPO:0000736)
|
Short attention span |
|
|
|
|
16 / 7739
|
|
19
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
21
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
22
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
23
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
24
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
25
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
26
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
27
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
28
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
29
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
30
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
31
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
32
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
33
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
34
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
35
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
36
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
37
|
(OMIM)
|
Cerebral atrophy, progressive |
|
|
|
|
4 / 7739
|
|
38
|
(OMIM)
|
Basal ganglia atrophy, progressive |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Increased urinary 3-methylglutaconic acid |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Increased urinary hydroxyisovaleric acid |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Decreased activity of 3-methylglutaconyl-CoA hydratase |
|
|
|
|
1 / 7739
|