|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0012371)
|
Hyperplasia of midface |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
3
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
4
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
5
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
6
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
7
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0002815)
|
Abnormality of the knee |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
12
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
13
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
14
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
15
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
16
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
17
|
(HPO:0000239)
|
Large fontanelles |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
18
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
19
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
20
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
21
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
22
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
23
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
25
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
26
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
27
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
28
|
(HPO:0005191)
|
Congenital knee dislocation |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
30
|
(OMIM)
|
Normal growth |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Puffy appearance around the eyes |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
33
|
(OMIM)
|
Slight joint laxity |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|