|
1
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000853)
|
Goiter |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000153)
|
Abnormality of the mouth |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
8
|
(HPO:0000821)
|
Hypothyroidism |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
11
|
(OMIM)
|
Sagging eyelids |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Double upper lip |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0009466)
|
Radial deviation of finger |
Occasional [Orphanet]
|
|
|
|
101 / 7739
|
|
14
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
16
|
(HPO:0010749)
|
Blepharochalasis |
|
|
|
|
3 / 7739
|