|
1
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
7
|
(HPO:0009588)
|
Vestibular Schwannoma |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Dysmorphic features |
|
|
|
|
6 / 7739
|
|
9
|
(OMIM)
|
Lower limb muscle weakness due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Lower limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Clumsy gait |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
13
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
14
|
(OMIM)
|
EMG shows neuropathic changes |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Nerve conduction velocities (NCV) vary from normal to decreased |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Self-abusive behavior |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|