|
1
|
(HPO:0000218)
|
High palate |
|
|
21797849
|
IBIS
|
356 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0000337)
|
Broad forehead |
|
|
21797849
|
IBIS
|
116 / 7739
|
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
8
|
(HPO:0000545)
|
Myopia |
|
|
21797849
|
IBIS
|
286 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
21797849
|
IBIS
|
853 / 7739
|
|
10
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
21797849
|
IBIS
|
69 / 7739
|
|
11
|
(HPO:0002212)
|
Curly hair |
|
|
21797849
|
IBIS
|
21 / 7739
|
|
12
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
|
13
|
(HPO:0002223)
|
Absent eyebrow |
|
|
21797849
|
IBIS
|
21 / 7739
|
|
14
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
21797849
|
IBIS
|
62 / 7739
|
|
15
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|