1
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Very frequent [IBIS]
|
94%
|
23443022
|
IBIS
|
34 / 7739
|
2
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
Very frequent [IBIS]
|
|
22266886
|
IBIS
|
161 / 7739
|
3
|
(HPO:0001258)
|
Spastic paraplegia |
Very frequent [IBIS]
|
|
22266886
|
IBIS
|
97 / 7739
|
4
|
(HPO:0001260)
|
Dysarthria |
Frequent [IBIS]
|
80%
|
22266886
|
IBIS
|
329 / 7739
|
5
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
80%
|
22266886
|
IBIS
|
230 / 7739
|
6
|
(HPO:0002355)
|
Difficulty walking |
Frequent [IBIS]
|
75%
|
19105190
|
IBIS
|
61 / 7739
|
7
|
(HPO:0008969)
|
Leg muscle stiffness |
Frequent [IBIS]
|
75%
|
19105190
|
IBIS
|
5 / 7739
|
8
|
(HPO:0003393)
|
Thenar muscle atrophy |
Frequent [IBIS]
|
50%
|
22266886
|
IBIS
|
10 / 7739
|
9
|
(HPO:0000020)
|
Urinary incontinence |
Frequent [IBIS]
|
44%
|
23443022
|
IBIS
|
75 / 7739
|
10
|
(HPO:0001288)
|
Gait disturbance |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
19105190
|
IBIS
|
318 / 7739
|
11
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
22266886
|
IBIS
|
187 / 7739
|
12
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [IBIS]
|
|
22266886
|
IBIS
|
78 / 7739
|
13
|
(HPO:0007178)
|
Motor polyneuropathy |
Frequent [IBIS]
|
|
22266886
|
IBIS
|
31 / 7739
|
14
|
(HPO:0003390)
|
Sensory axonal neuropathy |
Frequent [IBIS]
|
|
22266886
|
IBIS
|
26 / 7739
|
15
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
Frequent [IBIS]
|
|
22266886
|
IBIS
|
62 / 7739
|
16
|
(HPO:0007141)
|
Sensorimotor neuropathy |
Frequent [IBIS]
|
|
22266886
|
IBIS
|
27 / 7739
|
17
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [IBIS]
|
|
22266886
|
IBIS
|
206 / 7739
|
18
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
19105190
|
IBIS
|
363 / 7739
|
19
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
26937357
|
IBIS
|
79 / 7739
|
20
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
18337587
|
IBIS
|
317 / 7739
|
21
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
27957547
|
IBIS
|
142 / 7739
|
22
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
26937357
|
IBIS
|
180 / 7739
|
23
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
18337587
|
IBIS
|
1245 / 7739
|
24
|
(HPO:0001251)
|
Ataxia |
|
|
19105190
|
IBIS
|
413 / 7739
|
25
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
18337587
|
IBIS
|
327 / 7739
|
26
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
19194956
|
IBIS
|
253 / 7739
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
19105190
|
IBIS
|
1089 / 7739
|
28
|
(HPO:0001328)
|
Specific learning disability |
|
|
19105190
|
IBIS
|
114 / 7739
|
29
|
(HPO:0000012)
|
Urinary urgency |
|
|
19105190
|
IBIS
|
35 / 7739
|
30
|
(HPO:0000505)
|
Visual impairment |
|
|
19194956
|
IBIS
|
297 / 7739
|
31
|
(HPO:0000546)
|
Retinal degeneration |
|
|
19194956
|
IBIS
|
61 / 7739
|
32
|
(HPO:0000608)
|
Macular degeneration |
|
|
19194956
|
IBIS
|
36 / 7739
|
33
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
26937357
|
IBIS
|
27 / 7739
|
34
|
(HPO:0001268)
|
Mental deterioration |
|
|
19105190
|
IBIS
|
88 / 7739
|
35
|
(HPO:0001513)
|
Obesity |
|
|
23443022
|
IBIS
|
172 / 7739
|
36
|
(HPO:0001761)
|
Pes cavus |
|
|
19105190
|
IBIS
|
225 / 7739
|
37
|
(HPO:0002015)
|
Dysphagia |
|
|
23443022
|
IBIS
|
301 / 7739
|
38
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
19105190
|
IBIS
|
56 / 7739
|
39
|
(HPO:0002064)
|
Spastic gait |
|
|
26937357
|
IBIS
|
46 / 7739
|
40
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
19194956
|
IBIS
|
26 / 7739
|
41
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
18337587
|
IBIS
|
308 / 7739
|
42
|
(HPO:0002314)
|
Degeneration of the lateral corticospinal tracts |
|
|
17322883
|
IBIS
|
9 / 7739
|
43
|
(HPO:0030051)
|
Tip-toe gait |
|
|
25758904
|
IBIS
|
10 / 7739
|
44
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
19194956
|
IBIS
|
24 / 7739
|
45
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
27544499
|
IBIS
|
30 / 7739
|
46
|
(HPO:0003487)
|
Babinski sign |
|
|
18337587
|
IBIS
|
179 / 7739
|
47
|
(HPO:0007067)
|
Distal peripheral sensory neuropathy |
|
|
19194956
|
IBIS
|
1 / 7739
|
48
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
19105190
|
IBIS
|
61 / 7739
|
49
|
(HPO:0011448)
|
Ankle clonus |
|
|
26937357
|
IBIS
|
31 / 7739
|
50
|
(HPO:0011449)
|
Knee clonus |
|
|
18337587
|
IBIS
|
10 / 7739
|
51
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
22266886
|
IBIS
|
281 / 7739
|
52
|
(OMIM)
|
Atrophy of the thenar and hypothenar muscles |
|
|
22266886
|
IBIS
|
1 / 7739
|
53
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
19105190
|
IBIS
|
116 / 7739
|
54
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Occasional [Orphanet]
|
|
27544499
|
IBIS
|
12 / 7739
|
55
|
(HPO:0003676)
|
Progressive disorder |
|
|
18337587
|
IBIS
|
148 / 7739
|
56
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
Frquent [IBIS]
|
|
22266886
|
IBIS
|
73 / 7739
|
57
|
(HPO:0007354)
|
Amyotrophic lateral sclerosis |
|
|
22266886
|
IBIS
|
25 / 7739
|
58
|
(HPO:0001300)
|
Parkinsonism |
|
|
22266886
|
IBIS
|
75 / 7739
|
59
|
(HPO:0009130)
|
Hand muscle atrophy |
|
|
22266886
|
IBIS
|
11 / 7739
|
60
|
(HPO:0001263)
|
Global developmental delay |
|
|
19105190
|
IBIS
|
853 / 7739
|
61
|
(HPO:0200085)
|
Limb tremor |
|
|
19105190
|
IBIS
|
6 / 7739
|
62
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
19105190
|
IBIS
|
21 / 7739
|
63
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
19105190
|
IBIS
|
197 / 7739
|
64
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
19105190
|
IBIS
|
27 / 7739
|
65
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
19105190
|
IBIS
|
76 / 7739
|
66
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
19105190
|
IBIS
|
100 / 7739
|
67
|
(HPO:0007302)
|
Bipolar affective disorder |
|
|
19105190
|
IBIS
|
15 / 7739
|
68
|
(HPO:0000709)
|
Psychosis |
|
|
19105190
|
IBIS
|
61 / 7739
|
69
|
(HPO:0000738)
|
Hallucinations |
|
|
19105190
|
IBIS
|
60 / 7739
|
70
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
19105190
|
IBIS
|
96 / 7739
|
71
|
(HPO:0010845)
|
EEG with generalized slow activity |
|
|
19105190
|
IBIS
|
2 / 7739
|
72
|
(HPO:0002527)
|
Falls |
|
|
19105190
|
IBIS
|
10 / 7739
|
73
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
26937357
|
IBIS
|
118 / 7739
|
74
|
(HPO:0000726)
|
Dementia |
|
|
26937357
|
IBIS
|
131 / 7739
|
75
|
(HPO:0000488)
|
Retinopathy |
|
|
26937357
|
IBIS
|
75 / 7739
|
76
|
(HPO:0003563)
|
Hypobetalipoproteinemia |
|
|
25769290
|
IBIS
|
9 / 7739
|
77
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
18337587
|
IBIS
|
40 / 7739
|
78
|
(HPO:0002371)
|
Loss of speech |
|
|
23443022
|
IBIS
|
15 / 7739
|
79
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
23443022
|
IBIS
|
54 / 7739
|
80
|
(HPO:0001371)
|
Flexion contracture |
|
|
23443022
|
IBIS
|
220 / 7739
|
81
|
(HPO:0002607)
|
Bowel incontinence |
|
|
23443022
|
IBIS
|
33 / 7739
|
82
|
(HPO:0000508)
|
Ptosis |
|
|
18337587
|
IBIS
|
459 / 7739
|
83
|
(HPO:0000571)
|
Hypometric saccades |
|
|
18337587
|
IBIS
|
10 / 7739
|