|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000712)
|
Emotional lability |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
7
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
9
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
10
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
11
|
(OMIM)
|
Brisk jaw jerk |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Poor oromandibular coordination |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Slow, spastic tongue movements |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
15
|
(OMIM)
|
Cerebellar ataxia, limb and trunk |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hyperreflexia of the lower limbs |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Increased tone in the upper limbs (occur later) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
19
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0002497)
|
Spastic ataxia |
|
|
|
|
13 / 7739
|
|
22
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|