|
1
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
6
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
7
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
8
|
(HPO:0002023)
|
Anal atresia |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0000384)
|
Preauricular skin tag |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0009796)
|
Branchial cyst |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
16
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
18
|
(HPO:0000611)
|
Choroid coloboma |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0000078)
|
Abnormality of the genital system |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
20
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
21
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
22
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
23
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
|
|
22 / 7739
|
|
24
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
25
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
26
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
28
|
(HPO:0005160)
|
Total anomalous pulmonary venous return |
|
|
|
|
4 / 7739
|
|
29
|
(HPO:0005912)
|
Biliary atresia |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
31
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
32
|
(HPO:0100542)
|
Abnormal localization of kidney |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
33
|
(OMIM)
|
Normal in majority of cases |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Coloboma of retina |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Malrotation of gut |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Anal atresia with fistula |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Agenesis of uterus |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Normal to mild mental retardation |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
42
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
43
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
44
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|