1
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
2
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
3
|
(HPO:0000243)
|
Trigonocephaly |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
4
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
5
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
6
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
7
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
9
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
10
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
11
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
13
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
14
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
15
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
16
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
17
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Frequent [Orphanet]
|
|
|
|
46 / 7739
|
18
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
19
|
(HPO:0009748)
|
Large earlobe |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
20
|
(HPO:0000752)
|
Hyperactivity |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
21
|
(HPO:0011265)
|
Cleft earlobe |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
22
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
23
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
24
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|