|
1
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
2
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
4
|
(HPO:0000957)
|
Cafe-au-lait spot |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
5
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0011039)
|
Abnormality of the helix |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0003010)
|
Prolonged bleeding time |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
12
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
13
|
(HPO:0000465)
|
Webbed neck |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
18
|
(HPO:0000765)
|
Abnormality of the thorax |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|