1
|
(HPO:0100719)
|
Lens coloboma |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0005990)
|
Thyroid hypoplasia |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
6
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
7
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
8
|
(HPO:0000647)
|
Sclerocornea |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
9
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
10
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
11
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
12
|
(HPO:0011478)
|
True anophthalmia |
|
|
|
|
17 / 7739
|
13
|
(HPO:0005344)
|
Abnormality of the carotid arteries |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
14
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
15
|
(HPO:0001305)
|
Dandy-Walker malformation |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
16
|
(HPO:0002616)
|
Aortic root dilatation |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
17
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
18
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
19
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
20
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
21
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
22
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
23
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
24
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
25
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
26
|
(HPO:0000766)
|
Abnormality of the sternum |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
27
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
28
|
(HPO:0100761)
|
Visceral angiomatosis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
29
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
30
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
31
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
32
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
33
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
34
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
35
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
36
|
(HPO:0002277)
|
Horner syndrome |
|
|
|
|
7 / 7739
|
37
|
(HPO:0001724)
|
Aortic dilatation |
|
|
|
|
24 / 7739
|
38
|
(HPO:0004942)
|
Aortic aneurysm |
|
|
|
|
10 / 7739
|
39
|
(HPO:0005314)
|
Anomalous branches of internal carotid artery |
|
|
|
|
1 / 7739
|
40
|
(HPO:0007434)
|
Plaque-like facial hemangioma |
|
|
|
|
1 / 7739
|
41
|
(HPO:0007486)
|
Cavernous hemangioma of the face |
|
|
|
|
2 / 7739
|
42
|
(HPO:0007986)
|
Increased retinal vascularity |
|
|
|
|
1 / 7739
|
43
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
44
|
(HPO:0100029)
|
Lingual thyroid |
|
|
|
|
1 / 7739
|
45
|
(HPO:0100545)
|
Arterial stenosis |
|
|
|
|
22 / 7739
|
46
|
(HPO:0000329)
|
Facial hemangioma |
|
|
|
|
5 / 7739
|
47
|
(MedDRA:10063900)
|
Steal syndrome |
|
|
|
|
1 / 7739
|
48
|
(HPO:0002617)
|
Aneurysm |
|
|
|
|
34 / 7739
|
49
|
(OMIM)
|
Moya-moya phenomenon |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Subglottic hemangioma |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Sternal clefting |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Sternal pits |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Supraumbilical abdominal raphe |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Cerebral infarction Dandy-Walker Malformation |
|
|
|
|
1 / 7739
|
55
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
56
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
57
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
58
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
59
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|