|
1
|
(HPO:0000988)
|
Skin rash |
|
|
|
|
98 / 7739
|
|
2
|
(HPO:0001085)
|
Papilledema |
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
6
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0004950)
|
Peripheral arterial disease |
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0008043)
|
Retinal arteriolar constriction |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0011120)
|
Concave nasal ridge |
|
|
|
|
9 / 7739
|
|
11
|
(OMIM)
|
Contracted retinal arteries |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
13
|
(OMIM)
|
Mild saddle nose |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Elevation of spinal fluid protein and cells |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
16
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
17
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|