|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0001178)
|
Ulnar claw |
|
|
|
|
8 / 7739
|
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
7
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
10
|
(HPO:0004696)
|
Talipes cavus equinovarus |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
12
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
13
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
15
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
19
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
20
|
(HPO:0003481)
|
Segmental peripheral demyelination/remyelination |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
22
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
23
|
(OMIM)
|
Early onset open-angle glaucoma |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Glaucoma may precede development of neuropathy |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Kyphoscoliosis may be present |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
27
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
28
|
(HPO:0004684)
|
Talipes valgus |
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
30
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
31
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
32
|
(OMIM)
|
Severe distal sensory impairment |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
CSF protein content increased or at upper limit of normal |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
'Onion bulb' formation on nerve biopsy |
|
|
|
|
6 / 7739
|
|
35
|
(OMIM)
|
Segmental demyelination/remyelination on nerve biopsy |
|
|
|
|
9 / 7739
|
|
36
|
(OMIM)
|
Thin myelin sheaths |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Abnormal myelin folding consisting of globular masses of irregular myelin thickening |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|