1
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
2
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
3
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
4
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
5
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
7
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
8
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
9
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
10
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
11
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
13
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
14
|
(HPO:0000161)
|
Median cleft lip |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
15
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
16
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
17
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
18
|
(HPO:0000465)
|
Webbed neck |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
19
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
20
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
21
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
23
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
24
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
25
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
26
|
(HPO:0000349)
|
Widow's peak |
|
|
|
|
26 / 7739
|
27
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
28
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
29
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
30
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
31
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
32
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
33
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
34
|
(HPO:0001566)
|
Widely-spaced maxillary central incisors |
|
|
|
|
15 / 7739
|
35
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
36
|
(HPO:0002000)
|
Short columella |
|
|
|
|
11 / 7739
|
37
|
(HPO:0002738)
|
Hypoplastic frontal sinuses |
|
|
|
|
6 / 7739
|
38
|
(HPO:0004423)
|
Cranium bifidum occultum |
|
|
|
|
3 / 7739
|
39
|
(HPO:0005258)
|
Pectoral muscle hypoplasia/aplasia |
|
|
|
|
1 / 7739
|
40
|
(HPO:0006931)
|
Lipoma of corpus callosum |
|
|
|
|
1 / 7739
|
41
|
(HPO:0006992)
|
Anterior basal encephalocele |
|
|
|
|
1 / 7739
|
42
|
(HPO:0007541)
|
Frontal cutaneous lipoma |
|
|
|
|
2 / 7739
|
43
|
(HPO:0009099)
|
Median cleft palate |
|
|
|
|
3 / 7739
|
44
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
45
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
46
|
(OMIM)
|
Lateral displacement of inner canthi |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Variable bifid nose |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Broad notched nasal tip |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Accessory nasal tag |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Notched alae nasi |
|
|
|
|
1 / 7739
|
51
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
52
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
53
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
54
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
55
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
56
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
57
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
58
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
59
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
60
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
61
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|