|
1
|
(HPO:0100026)
|
Arteriovenous malformation |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
2
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0002623)
|
Overriding aorta |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
7
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
9
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0000272)
|
Malar flattening |
Occasional [Orphanet]
|
|
|
|
277 / 7739
|
|
11
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
12
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
16
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
17
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
18
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
21
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
22
|
(HPO:0002627)
|
Right aortic arch with mirror image branching |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Esophageal indentation on barium swallow |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Peculiar facies |
|
|
|
|
7 / 7739
|
|
25
|
(HPO:0012020)
|
Right aortic arch |
|
|
|
|
9 / 7739
|
|
26
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
27
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Very frequent [Orphanet]
|
|
|
|
57 / 7739
|
|
28
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
29
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|