1
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
4
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
6
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
7
|
(HPO:0001734)
|
Annular pancreas |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
8
|
(HPO:0001743)
|
Abnormality of the spleen |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
9
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
10
|
(HPO:0001822)
|
Hallux valgus |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
11
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
12
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
13
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
14
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
16
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
17
|
(HPO:0002247)
|
Duodenal atresia |
|
|
|
|
13 / 7739
|
18
|
(HPO:0100867)
|
Duodenal stenosis |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
19
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
20
|
(HPO:0009466)
|
Radial deviation of finger |
Very frequent [Orphanet]
|
|
|
|
101 / 7739
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
22
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
23
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
25
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
26
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
27
|
(HPO:0000237)
|
Small anterior fontanelle |
|
|
|
|
10 / 7739
|
28
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
29
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
30
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
31
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
32
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
33
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
34
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
35
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
36
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
37
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
38
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
39
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
40
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
41
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
42
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
43
|
(HPO:0001605)
|
Vocal cord paralysis |
|
|
|
|
13 / 7739
|
44
|
(HPO:0001746)
|
Asplenia |
|
|
|
|
19 / 7739
|
45
|
(HPO:0001747)
|
Accessory spleen |
|
|
|
|
8 / 7739
|
46
|
(HPO:0001748)
|
Polysplenia |
|
|
|
|
14 / 7739
|
47
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
48
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
49
|
(HPO:0004691)
|
2-3 toe syndactyly |
56% [HPO:probinson]
|
|
|
|
50 / 7739
|
50
|
(HPO:0004692)
|
4-5 toe syndactyly |
86% [HPO:probinson]
|
|
|
|
6 / 7739
|
51
|
(HPO:0009161)
|
Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
|
|
|
|
4 / 7739
|
52
|
(HPO:0009568)
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger |
|
|
|
|
4 / 7739
|
53
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
54
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|