|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
5
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
8
|
(HPO:0000729)
|
Autistic behavior |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0000767)
|
Pectus excavatum |
rare [HPO:skoehler]
|
|
|
|
244 / 7739
|
|
10
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
12
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
13
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
14
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
15
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
16
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
17
|
(HPO:0002827)
|
Hip dislocation |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
|
18
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
19
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
20
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
21
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
22
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
23
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
24
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
26
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
28
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
30
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
31
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
32
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
|
33
|
(OMIM)
|
Proximally placed toes |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Developmental delay, mild to moderate |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Low-normal intelligence |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Speech defect |
|
|
|
|
3 / 7739
|
|
37
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
38
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
39
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|