1
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
2
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
3
|
(Orphanet:34800)
|
Aortic arches anomalies |
|
|
|
|
2 / 7739
|
4
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
5
|
(HPO:0009892)
|
Anotia |
|
|
|
|
8 / 7739
|
6
|
(HPO:0011265)
|
Cleft earlobe |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
7
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
8
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
10
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
12
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
13
|
(HPO:0000384)
|
Preauricular skin tag |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
14
|
(HPO:0000269)
|
Prominent occiput |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
15
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
16
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
17
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
18
|
(HPO:0000932)
|
Abnormality of the posterior cranial fossa |
|
|
|
|
5 / 7739
|
19
|
(HPO:0001710)
|
Conotruncal defect |
|
|
|
|
3 / 7739
|
20
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
21
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
22
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Frequent [Orphanet]
|
|
|
|
57 / 7739
|
23
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
24
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
25
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
26
|
(HPO:0008544)
|
Abnormally folded helix |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|