|
1
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
5
|
(OMIM)
|
Ulceration and amputation of the fingers due to sensory loss |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Ulceration and amputation of the toes due to sensory loss |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Equinus deformities (1 patient) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Distal leg muscle atrophy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Distal weakness, upper and lower limbs (variable) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Paralysis of the lower limbs (later) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Distal sensory loss, panmodal (retained in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Spontaneous pain (1 patient) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased or absent sensory potentials in the sural, ulnar and median nerves |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Decreased or absent motor potentials in the tibial and peroneal nerves |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
17
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|