1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
2
|
(HPO:0001820)
|
Leukonychia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
3
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
4
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
5
|
(MedDRA:10070650)
|
Knuckle pads |
|
|
|
|
2 / 7739
|
6
|
(OMIM)
|
Keratosis palmaris et plantaris |
|
|
|
|
1 / 7739
|
7
|
(OMIM)
|
Cochlear deafness |
|
|
|
|
1 / 7739
|
8
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
9
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|