|
1
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
2
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
4
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
5
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0003683)
|
Large beaked nose |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0004779)
|
Brittle scalp hair |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0011964)
|
Intermittent painful muscle spasms |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Fragile, thin, and sparse scalp hair |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
No body hair |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Slightly prominent eyes |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
14
|
(OMIM)
|
Intermittent painful trunk and limb muscle contractions |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Large, low-implanted ears |
|
|
|
|
1 / 7739
|