|
1
|
(HPO:0000546)
|
Retinal degeneration |
3/7 [HPO:probinson]
|
|
19805727
|
IBIS
|
61 / 7739
|
|
2
|
(HPO:0000608)
|
Macular degeneration |
|
|
22554690
|
IBIS
|
36 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
4/10 [HPO:probinson]
|
|
19805727
|
IBIS
|
555 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
22554690
|
IBIS
|
1089 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
24999486
|
IBIS
|
413 / 7739
|
|
6
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
18394578
|
IBIS
|
97 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
18332254
|
IBIS
|
329 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
18332254
|
IBIS
|
363 / 7739
|
|
9
|
(HPO:0001761)
|
Pes cavus |
|
|
18332254
|
IBIS
|
225 / 7739
|
|
10
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
18332254
|
IBIS
|
56 / 7739
|
|
11
|
(HPO:0002064)
|
Spastic gait |
|
|
24999486
|
IBIS
|
46 / 7739
|
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
18332254
|
IBIS
|
161 / 7739
|
|
13
|
(HPO:0002169)
|
Clonus |
|
|
24999486
|
IBIS
|
37 / 7739
|
|
14
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
5/9 [HPO:probinson]
|
|
19805727
|
IBIS
|
62 / 7739
|
|
15
|
(HPO:0003487)
|
Babinski sign |
|
|
18332254
|
IBIS
|
179 / 7739
|
|
16
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
18394578
|
IBIS
|
118 / 7739
|
|
17
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
18332254
|
IBIS
|
61 / 7739
|
|
18
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
22554690
|
IBIS
|
36 / 7739
|
|
19
|
(HPO:0003676)
|
Progressive disorder |
|
|
24999486
|
IBIS
|
148 / 7739
|
|
20
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
18332254
|
IBIS
|
26 / 7739
|
|
21
|
(HPO:0001348)
|
Brisk reflexes |
|
|
18332254
|
IBIS
|
15 / 7739
|
|
22
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
18332254
|
IBIS
|
15 / 7739
|
|
23
|
(HPO:0007350)
|
Hyperreflexia in upper limbs |
|
|
18332254
|
IBIS
|
5 / 7739
|
|
24
|
(HPO:0001268)
|
Mental deterioration |
|
|
18332254
|
IBIS
|
88 / 7739
|
|
25
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
18332254
|
IBIS
|
15 / 7739
|
|
26
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
18332254
|
IBIS
|
73 / 7739
|
|
27
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
18332254
|
IBIS
|
197 / 7739
|
|
28
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
18332254
|
IBIS
|
171 / 7739
|
|
29
|
(HPO:0001271)
|
Polyneuropathy |
|
|
22554690
|
IBIS
|
56 / 7739
|
|
30
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
22554690
|
IBIS
|
49 / 7739
|
|
31
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
22554690
|
IBIS
|
29 / 7739
|
|
32
|
(HPO:0001300)
|
Parkinsonism |
|
|
22554690
|
IBIS
|
75 / 7739
|
|
33
|
(HPO:0011448)
|
Ankle clonus |
|
|
24999486
|
IBIS
|
31 / 7739
|