1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
3
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
4
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
5
|
(HPO:0000625)
|
Cleft eyelid |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
6
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
7
|
(HPO:0002023)
|
Anal atresia |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
8
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
9
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
10
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
11
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
12
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
13
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
14
|
(HPO:0000076)
|
Vesicoureteral reflux |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
15
|
(HPO:0003396)
|
Syringomyelia |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
16
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
19
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
20
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
21
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
22
|
(HPO:0100542)
|
Abnormal localization of kidney |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
23
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
24
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
25
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
26
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
27
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|