|
1
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
7
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
8
|
(HPO:0000540)
|
Hypermetropia |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
10
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
11
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
13
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0009700)
|
Finger symphalangism |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
16
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
17
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
18
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
19
|
(HPO:0012905)
|
Euryblepharon |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
21
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|