|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0007021)
|
Pain insensitivity |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
3
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
6
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
9
|
(OMIM)
|
Thumb and fingers, unilateral flexion deformities |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Extensor finger muscles and tendons absent or hypoplastic |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Polyneuropathy, all limbs |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0003474)
|
Sensory impairment |
|
|
|
|
54 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|