|
1
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
2
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
5
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0000679)
|
Taurodontia |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0003771)
|
Pulp stones |
|
|
|
|
6 / 7739
|
|
10
|
(OMIM)
|
Full-cheek appearance |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Large, bulbous crowns of primary and secondary canines and molars (globodontia) |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Double pulp chambers |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Ankylosis of primary molars |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Enamel defect |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Absence of teeth, variable (primarily the first and second premolars) |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Microdeletion of chromosome 11q13 (43-490kb) |
|
|
|
|
2 / 7739
|