|
1
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
6
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
7
|
(OMIM)
|
Gastrointestinal dysfunction |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Painless fractures |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Slow-healing wounds due to painless injuries |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Self injury |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Mild muscle weakness |
|
|
|
|
4 / 7739
|
|
12
|
(OMIM)
|
Delayed motor development, mild |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0007021)
|
Pain insensitivity |
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0007328)
|
Impaired pain sensation |
|
|
|
|
10 / 7739
|
|
15
|
(OMIM)
|
Inability to feel pain |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|