|
1
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
5
|
(HPO:0004383)
|
Hypoplastic left heart |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0010297)
|
Bifid tongue |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
8
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
9
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
10
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
11
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
12
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
14
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
15
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
|
17
|
(HPO:0002744)
|
Bilateral cleft lip and palate |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0003271)
|
Visceromegaly |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
20
|
(HPO:0004510)
|
Pancreatic islet-cell hyperplasia |
|
|
|
|
9 / 7739
|
|
21
|
(HPO:0005922)
|
Abnormal hand morphology |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0009944)
|
Partial duplication of thumb phalanx |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0000157)
|
Abnormality of the tongue |
|
|
|
|
6 / 7739
|
|
24
|
(OMIM)
|
Flat facial profile |
|
|
|
|
6 / 7739
|
|
25
|
(OMIM)
|
Normal chromosomes |
|
|
|
|
5 / 7739
|
|
26
|
(OMIM)
|
Lethal complex congenital heart defect |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
|
|
|
|
15 / 7739
|
|
28
|
(OMIM)
|
Minor hand anomalies |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
|
30
|
(OMIM)
|
Malrotation of the intestine |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
|
32
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
33
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
|
34
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
37
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|