|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
4
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0000699)
|
Diastema |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
8
|
(OMIM)
|
Bilateral congenital profound sensorineural hearing loss |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|