|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
|
|
37 / 7739
|
|
3
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
8
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
9
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003447)
|
Axonal loss |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0007149)
|
Distal upper limb amyotrophy |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
16
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
17
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
18
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
19
|
(OMIM)
|
Amyotrophy, distal, upper and lower limbs |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
21
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
22
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
23
|
(OMIM)
|
Sural nerve biopsy shows axonal loss |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Low to normal range of motor nerve conduction velocities (23 to 45 m/sec) ('intermediate' CMT) |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|