|
1
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
7
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0002403)
|
Positive Romberg sign |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
10
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0002943)
|
Thoracic scoliosis |
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0007149)
|
Distal upper limb amyotrophy |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
14
|
(HPO:0009487)
|
Ulnar deviation of the hand |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
16
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
18
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
19
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
|
20
|
(OMIM)
|
Subluxed hand joints |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Flexed fingers |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Distal muscle atrophy, more severe in the upper limbs |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Onset of neurologic symptoms in teenage years |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Normal nerve conduction velocities |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Sural nerve biopsy shows mild demyelination |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|