|
1
|
(HPO:0000648)
|
Optic atrophy |
Very frequent [IBIS]
|
|
24741715
|
IBIS
|
238 / 7739
|
|
2
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Very frequent [IBIS]
|
|
24741715
|
IBIS
|
76 / 7739
|
|
3
|
(HPO:0003344)
|
3-Methylglutaric aciduria |
Very frequent [IBIS]
|
|
24741715
|
IBIS
|
6 / 7739
|
|
4
|
(OMIM)
|
Motor impairment |
Very frequent [IBIS]
|
|
25657044
|
IBIS
|
2 / 7739
|
|
5
|
(HPO:0003535)
|
3-Methylglutaconic aciduria |
Very frequent [IBIS]
|
|
25657044
|
IBIS
|
10 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
Frequent [IBIS]
|
|
24997715
|
IBIS
|
251 / 7739
|
|
7
|
(HPO:0002072)
|
Chorea |
Frequent [IBIS]
|
|
25657044
|
IBIS
|
53 / 7739
|
|
8
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
Frequent [IBIS]
|
|
24997715
|
IBIS
|
230 / 7739
|
|
9
|
(HPO:0002313)
|
Spastic paraparesis |
Frequent [IBIS]
|
|
25657044
|
IBIS
|
33 / 7739
|
|
10
|
(HPO:0001272)
|
Cerebellar atrophy |
Frequent [IBIS]
|
|
25657044
|
IBIS
|
197 / 7739
|
|
11
|
(HPO:0001251)
|
Ataxia |
Frequent [Orphanet]
typical [HPO]
|
|
24741715
|
IBIS
|
413 / 7739
|
|
12
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
typical [HPO]
|
|
24749080
|
IBIS
|
327 / 7739
|
|
13
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
24749080
|
IBIS
|
55 / 7739
|
|
14
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
24741715
|
IBIS
|
129 / 7739
|
|
15
|
(HPO:0001270)
|
Motor delay |
Frequent [Orphanet]
|
|
25657044
|
IBIS
|
322 / 7739
|
|
16
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
25657044
|
IBIS
|
297 / 7739
|
|
17
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
24749080
|
IBIS
|
318 / 7739
|
|
18
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
20301646
|
IBIS
|
555 / 7739
|
|
19
|
(HPO:0001260)
|
Dysarthria |
|
|
25657044
|
IBIS
|
329 / 7739
|
|
20
|
(HPO:0001347)
|
Hyperreflexia |
|
|
20301646
|
IBIS
|
363 / 7739
|
|
21
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
20301646
|
IBIS
|
328 / 7739
|
|
22
|
(HPO:0003487)
|
Babinski sign |
|
|
20301646
|
IBIS
|
179 / 7739
|
|
23
|
(OMIM)
|
Increased urinary 3-methylglutaconic acid |
|
|
25657044
|
IBIS
|
2 / 7739
|
|
24
|
(HPO:0002064)
|
Spastic gait |
|
|
20301646
|
IBIS
|
46 / 7739
|
|
25
|
(HPO:0000486)
|
Strabismus |
|
|
20301646
|
IBIS
|
576 / 7739
|
|
26
|
(HPO:0002186)
|
Apraxia |
|
|
20301646
|
IBIS
|
22 / 7739
|
|
27
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
24749080
|
IBIS
|
197 / 7739
|