1
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
4
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
5
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
6
|
(HPO:0000341)
|
Narrow forehead |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
7
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
8
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
9
|
(HPO:0000444)
|
Convex nasal ridge |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
10
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
11
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
12
|
(HPO:0001061)
|
Acne |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
13
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
14
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
16
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
19
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
20
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
22
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
23
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
24
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
25
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
26
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
27
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|