|
1
|
(HPO:0000759)
|
Abnormal peripheral nervous system morphology |
|
|
|
|
4 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0002936)
|
Distal sensory impairment |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
9
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
10
|
(OMIM)
|
Pes varus |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Lower limbs affected before upper limbs |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
EMG shows neurogenic changes |
|
|
|
|
5 / 7739
|
|
13
|
(OMIM)
|
Muscle biopsy showed neurogenic changes |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Peripheral nerve biopsy is normal |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Distal sensory impairment, mild (in some patients) |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
17
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
18
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|