|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
3
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
|
5
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
7
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
8
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
9
|
(HPO:0001480)
|
Freckling |
|
|
|
|
13 / 7739
|
|
10
|
(HPO:0002949)
|
Fused cervical vertebrae |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
12
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
13
|
(HPO:0100266)
|
Synostosis of carpals/tarsals |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Facial freckling |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Congenital mitral regurgitation |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Iris freckling |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Stapes footplate fixation |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|