1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0000588)
|
Optic nerve coloboma |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
4
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
5
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
6
|
(HPO:0002777)
|
Tracheal stenosis |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
7
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
8
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
9
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
10
|
(HPO:0008750)
|
Laryngeal atresia |
Frequent [Orphanet]
|
|
|
|
3 / 7739
|
11
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
12
|
(HPO:0000453)
|
Choanal atresia |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
13
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
14
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
15
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
16
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
17
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
18
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
19
|
(HPO:0000171)
|
Microglossia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
20
|
(HPO:0000243)
|
Trigonocephaly |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
21
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
22
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
23
|
(HPO:0000220)
|
Velopharyngeal insufficiency |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
24
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
25
|
(HPO:0000205)
|
Pursed lips |
|
|
|
|
6 / 7739
|
26
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
27
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
28
|
(OMIM)
|
Midfacial hypoplasia |
|
|
|
|
3 / 7739
|
29
|
(OMIM)
|
Orbital hypoplasia |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Zygomatic arch hypoplasia |
|
|
|
|
2 / 7739
|
31
|
(MedDRA:10001501)
|
Aglossia |
|
|
|
|
2 / 7739
|
32
|
(Orphanet:9200)
|
Protruding lips |
|
|
|
|
4 / 7739
|
33
|
(HPO:0009794)
|
Branchial anomaly |
|
|
|
|
5 / 7739
|
34
|
(OMIM)
|
Gingival fusion |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Pharyngeal membrane |
|
|
|
|
1 / 7739
|
36
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
38
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
39
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
40
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
42
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
43
|
(HPO:0012730)
|
Aglossia |
|
|
|
|
3 / 7739
|