|
1
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
6
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
9
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
10
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
14
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
15
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
16
|
(HPO:0002097)
|
Emphysema |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
17
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
18
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
19
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
20
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
21
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
22
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
23
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
24
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
25
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
26
|
(HPO:0000492)
|
Abnormality of the eyelid |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
27
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|