|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
5
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
6
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
7
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000465)
|
Webbed neck |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0010804)
|
Tented upper lip vermilion |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
11
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
14
|
(HPO:0000072)
|
Hydroureter |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
15
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
16
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
17
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
18
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
19
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
20
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
21
|
(HPO:0004383)
|
Hypoplastic left heart |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
22
|
(HPO:0000194)
|
Open mouth |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
23
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
24
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
25
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
26
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
28
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
29
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
30
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
31
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
32
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
33
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
34
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
35
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
36
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
37
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
38
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|