|
1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0009914)
|
Cyclopia |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
3
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
7
|
(HPO:0000171)
|
Microglossia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0009932)
|
Single naris |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
10
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0002139)
|
Arrhinencephaly |
|
|
|
|
13 / 7739
|
|
13
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
15
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
16
|
(HPO:0001696)
|
Situs inversus totalis |
|
|
|
|
44 / 7739
|
|
17
|
(HPO:0003363)
|
Abdominal situs inversus |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
18
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
19
|
(HPO:0100663)
|
Synotia |
Very frequent [Orphanet]
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
21
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
22
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
23
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
24
|
(HPO:0002779)
|
Tracheomalacia |
|
|
|
|
26 / 7739
|
|
25
|
(HPO:0005349)
|
Hypoplasia of the epiglottis |
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0008749)
|
Laryngeal hypoplasia |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
28
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
29
|
(MedDRA:10058118)
|
Otocephaly |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Mandibular agenesis |
|
|
|
|
3 / 7739
|
|
31
|
(OMIM)
|
Agnathia |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
|
33
|
(OMIM)
|
Synophthalmia |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Frontal proboscis |
|
|
|
|
1 / 7739
|
|
35
|
(MedDRA:10001501)
|
Aglossia |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Hypoplastic oropharynx |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Trachea-oropharynx connection agenesis |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Blind-ended trachea |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
40
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
41
|
(HPO:0012443)
|
Abnormality of brain morphology |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
42
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
43
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
44
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
46
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
47
|
(HPO:0012730)
|
Aglossia |
|
|
|
|
3 / 7739
|