1
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
2
|
(HPO:0000244)
|
Brachyturricephaly |
|
|
|
|
9 / 7739
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
4
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
5
|
(HPO:0000339)
|
Pugilistic facies |
|
|
|
|
2 / 7739
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
9
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
10
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
11
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
12
|
(HPO:0001608)
|
Abnormality of the voice |
|
|
|
|
126 / 7739
|
13
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
14
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
15
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
|
|
20 / 7739
|
16
|
(HPO:0001821)
|
Broad nail |
|
|
|
|
5 / 7739
|
17
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
18
|
(HPO:0001836)
|
Camptodactyly of toe |
|
|
|
|
27 / 7739
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
20
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
21
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
22
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
23
|
(HPO:0008075)
|
Progressive pes cavus |
|
|
|
|
1 / 7739
|
24
|
(HPO:0008141)
|
Dislocation of toes |
|
|
|
|
1 / 7739
|
25
|
(HPO:0009042)
|
Marked muscular hypertrophy |
|
|
|
|
1 / 7739
|
26
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
27
|
(OMIM)
|
Large eyebrows |
|
|
|
|
1 / 7739
|
28
|
(HPO:0001215)
|
Camptodactyly of 2nd-5th fingers |
|
|
|
|
8 / 7739
|
29
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
30
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
31
|
(OMIM)
|
Wide feet |
|
|
|
|
3 / 7739
|
32
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
33
|
(OMIM)
|
Muffled voice |
|
|
|
|
1 / 7739
|
34
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|