|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0005180)
|
Tricuspid regurgitation |
|
|
|
|
20 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
8
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
10
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
11
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
15
|
(HPO:0000558)
|
Rieger anomaly |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
17
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
18
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
20
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
21
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
23
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
24
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|