1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
3
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
4
|
(HPO:0000175)
|
Cleft palate |
78.0000 % [HPO]
|
|
|
|
349 / 7739
|
5
|
(HPO:0004684)
|
Talipes valgus |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
7
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0000347)
|
Micrognathia |
72.0000 % [HPO]
|
|
|
|
426 / 7739
|
10
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
12
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
13
|
(HPO:0000162)
|
Glossoptosis |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
14
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
15
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
16
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
39.0000 % [HPO]
|
|
|
|
288 / 7739
|
17
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
18
|
(HPO:0010296)
|
Ankyloglossia |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
19
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
39.0000 % [HPO]
|
|
|
|
316 / 7739
|
20
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
21
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
22
|
(HPO:0001388)
|
Joint laxity |
7.5000 % [HPO]
|
|
|
|
117 / 7739
|
23
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
24
|
(HPO:0000023)
|
Inguinal hernia |
7.5000 % [HPO]
|
|
|
|
181 / 7739
|
25
|
(HPO:0000028)
|
Cryptorchidism |
7.5000 % [HPO]
|
|
|
|
347 / 7739
|
26
|
(HPO:0000204)
|
Cleft upper lip |
7.5000 % [HPO]
|
|
|
|
193 / 7739
|
27
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
28
|
(HPO:0000262)
|
Turricephaly |
39.0000 % [HPO]
|
|
|
|
38 / 7739
|
29
|
(HPO:0000377)
|
Abnormality of the pinna |
33.0000 % [HPO]
|
|
|
|
111 / 7739
|
30
|
(HPO:0000470)
|
Short neck |
7.5000 % [HPO]
|
|
|
|
345 / 7739
|
31
|
(HPO:0000476)
|
Cystic hygroma |
|
|
|
|
22 / 7739
|
32
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
33
|
(HPO:0000772)
|
Abnormality of the ribs |
7.5000 % [HPO]
|
|
|
|
146 / 7739
|
34
|
(HPO:0001250)
|
Seizures |
7.5000 % [HPO]
|
|
|
|
1245 / 7739
|
35
|
(HPO:0001263)
|
Global developmental delay |
7.5000 % [HPO]
|
|
|
|
853 / 7739
|
36
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
37
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
38
|
(HPO:0001511)
|
Intrauterine growth retardation |
7.5000 % [HPO]
|
|
|
|
358 / 7739
|
39
|
(HPO:0001537)
|
Umbilical hernia |
7.5000 % [HPO]
|
|
|
|
206 / 7739
|
40
|
(HPO:0001651)
|
Dextrocardia |
39.0000 % [HPO]
|
|
|
|
38 / 7739
|
41
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
42
|
(HPO:0001762)
|
Talipes equinovarus |
7.5000 % [HPO]
|
|
|
|
309 / 7739
|
43
|
(HPO:0002623)
|
Overriding aorta |
|
|
|
|
8 / 7739
|
44
|
(HPO:0002722)
|
Recurrent abscess formation |
7.5000 % [HPO]
|
|
|
|
4 / 7739
|
45
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
46
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
40.0000 % [HPO]
|
|
|
|
13 / 7739
|
47
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
48
|
(HPO:0009464)
|
Ulnar deviation of the 2nd finger |
|
|
|
|
6 / 7739
|
49
|
(HPO:0009473)
|
Joint contracture of the hand |
7.5000 % [HPO]
|
|
|
|
84 / 7739
|
50
|
(HPO:0009495)
|
Pseudoepiphyses of the 2nd finger |
100.0000 % [HPO]
|
|
|
|
2 / 7739
|
51
|
(HPO:0010628)
|
Facial palsy |
7.5000 % [HPO]
|
|
|
|
146 / 7739
|
52
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
53
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
54
|
(OMIM)
|
Robin anomaly |
|
|
|
|
1 / 7739
|
55
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
56
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
57
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
58
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
59
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
60
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
61
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
62
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
63
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
64
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
65
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
66
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
67
|
(HPO:0009466)
|
Radial deviation of finger |
Occasional [Orphanet]
|
|
|
|
101 / 7739
|
68
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
69
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|