|
1
|
(HPO:0010305)
|
Absence of the sacrum |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
3
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0002815)
|
Abnormality of the knee |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
6
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
7
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
8
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
9
|
(HPO:0001357)
|
Plagiocephaly |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
10
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
11
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
14
|
(HPO:0002101)
|
Abnormal lung lobation |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
15
|
(HPO:0100559)
|
Lower limb asymmetry |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
19
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0001743)
|
Abnormality of the spleen |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
21
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
|
|
|
|
34 / 7739
|
|
22
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
23
|
(HPO:0006283)
|
Multiple unerupted teeth |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0006333)
|
Crowded maxillary incisors |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
26
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
27
|
(OMIM)
|
Fused spleen and gonad |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
29
|
(HPO:0003027)
|
Mesomelia |
|
|
|
|
58 / 7739
|
|
30
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
|
31
|
(HPO:0009827)
|
Amelia |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
|
33
|
(OMIM)
|
Tetramelic limb deficiencies |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Terminal transverse hemimelia |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Deep, narrow, V-shaped palate |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
37
|
(HPO:0002817)
|
Abnormality of the upper limb |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
38
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
39
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
40
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
41
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
42
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
43
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
44
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
45
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|