|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
4
|
(HPO:0001149)
|
Lattice corneal dystrophy |
|
|
|
|
7 / 7739
|
|
5
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
6
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
9
|
(HPO:0003216)
|
Generalized amyloid deposition |
|
|
|
|
4 / 7739
|
|
10
|
(OMIM)
|
Mutant gelsolin gene (137350) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Amyloid cardiomyopathy |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Cranial neuropathy, esp. facial paresis |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Peripheral polyneuropathy, esp. vibration and touch loss |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Autonomic dysfunction does not occur |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Gastrointestinal symptoms are inconstant |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|