1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
4
|
(HPO:0002607)
|
Bowel incontinence |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
5
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
6
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
7
|
(HPO:0002204)
|
Pulmonary embolism |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
8
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
9
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
10
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
24954637
|
IBIS
|
413 / 7739
|
12
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
13
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
24954637
|
IBIS
|
1089 / 7739
|
15
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
24954637
|
IBIS
|
555 / 7739
|
16
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
17
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
18
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
19
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
20
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
21
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
22
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
23
|
(HPO:0002314)
|
Degeneration of the lateral corticospinal tracts |
|
|
|
|
9 / 7739
|
24
|
(HPO:0002503)
|
Spinocerebellar tract degeneration |
|
|
|
|
8 / 7739
|
25
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
26
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
27
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
28
|
(MedDRA:10003694)
|
Atrophy |
|
|
|
|
7 / 7739
|
29
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
30
|
(OMIM)
|
Upper limb involvement |
|
|
|
|
4 / 7739
|
31
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
32
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
34
|
(HPO:0011037)
|
Decreased urine output |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
35
|
(HPO:0003474)
|
Sensory impairment |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
36
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
37
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
38
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
39
|
(HPO:0001250)
|
Seizures |
|
|
24954637
|
IBIS
|
1245 / 7739
|
40
|
(HPO:0001271)
|
Polyneuropathy |
|
|
24954637
|
IBIS
|
56 / 7739
|
41
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
24954637
|
IBIS
|
73 / 7739
|