|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0003028)
|
Abnormality of the ankles |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
4
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
5
|
(HPO:0000185)
|
Cleft soft palate |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
8
|
(HPO:0008513)
|
Bilateral conductive hearing impairment |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
10
|
(HPO:0008498)
|
No permanent dentition |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0010109)
|
Short hallux |
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0012225)
|
Oligodontia of primary teeth |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Severe oligodontia of deciduous teeth |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Foot bone fusions |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
16
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|