|
1
|
(HPO:0100719)
|
Lens coloboma |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
|
2
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
5
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
8
|
(HPO:0001100)
|
Heterochromia iridis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
11
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
12
|
(HPO:0011069)
|
Increased number of teeth |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
13
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
|
14
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
16
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
17
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
18
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
19
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
20
|
(HPO:0000679)
|
Taurodontia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
21
|
(HPO:0000689)
|
Dental malocclusion |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
22
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
23
|
(HPO:0000589)
|
Coloboma |
rare [HPO:skoehler]
|
|
|
|
47 / 7739
|
|
24
|
(HPO:0003771)
|
Pulp stones |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
26
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
27
|
(OMIM)
|
Full-cheek appearance |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Large, bulbous crowns of primary and secondary canines and molars (globodontia) |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Double pulp chambers |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Ankylosis of primary molars |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Enamel defect |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Absence of teeth, variable (primarily the first and second premolars) |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Microdeletion of chromosome 11q13 (43-490kb) |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0000168)
|
Abnormality of the gingiva |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
35
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
36
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|