|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
8641704; 10735274; 11523563
|
IBIS
|
555 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
8641704; 10735274; 11523563
|
IBIS
|
413 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
8641704; 10735274; 11523563
|
IBIS
|
329 / 7739
|
|
4
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
8641704; 11523563
|
IBIS
|
160 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
8641704; 10735274; 11523563
|
IBIS
|
225 / 7739
|
|
6
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
10735274; 11523563
|
IBIS
|
26 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
|
|
8641704; 10735274; 11523563
|
IBIS
|
705 / 7739
|
|
8
|
(HPO:0003116)
|
Abnormal echocardiogram |
|
|
10735274
|
IBIS
|
33 / 7739
|
|
9
|
(HPO:0003487)
|
Babinski sign |
|
|
11523563
|
IBIS
|
179 / 7739
|
|
10
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
11523563
|
IBIS
|
131 / 7739
|
|
11
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
8641704
|
IBIS
|
26 / 7739
|
|
12
|
(HPO:0007230)
|
Decreased distal sensory nerve action potential |
|
|
8641704
|
IBIS
|
2 / 7739
|
|
13
|
(HPO:0006855)
|
Cerebellar vermis atrophy |
|
|
8641704; 10735274
|
IBIS
|
8 / 7739
|
|
14
|
(HPO:0000648)
|
Optic atrophy |
|
|
10735274
|
IBIS
|
238 / 7739
|
|
15
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
10735274
|
IBIS
|
192 / 7739
|
|
16
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
10735274
|
IBIS
|
197 / 7739
|
|
17
|
(HPO:0010831)
|
Impaired proprioception |
|
|
8641704
|
IBIS
|
7 / 7739
|