1
|
(HPO:0000062)
|
Ambiguous genitalia |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
4
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
5
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
6
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
9
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
10
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
11
|
(HPO:0001636)
|
Tetralogy of Fallot |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
12
|
(HPO:0001669)
|
Transposition of the great arteries |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
13
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
14
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
15
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
16
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
17
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
18
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
19
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
20
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
22
|
(HPO:0011039)
|
Abnormality of the helix |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
23
|
(HPO:0008544)
|
Abnormally folded helix |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
24
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
25
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|