|
1
|
(HPO:0000588)
|
Optic nerve coloboma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
2
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
|
3
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
4
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
|
5
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
6
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
7
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
8
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
9
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
12
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
13
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0001829)
|
Foot polydactyly |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
16
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
17
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
18
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
19
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
20
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
21
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
22
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
|
23
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
24
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
25
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
26
|
(OMIM)
|
Cranial defects |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Unilateral craniosynostosis |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Basal skull shortness |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Skin defects |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
31
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
32
|
(HPO:0002012)
|
Abnormality of the abdominal organs |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Multiple gastrointestinal myofibromata |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
35
|
(HPO:0002244)
|
Abnormality of the small intestine |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
37
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0012719)
|
Functional abnormality of the gastrointestinal tract |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|