|
1
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0100555)
|
Asymmetric growth |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
|
7
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
8
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0000465)
|
Webbed neck |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
12
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
14
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
15
|
(HPO:0009794)
|
Branchial anomaly |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
17
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
18
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
21
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
22
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
23
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
24
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
25
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
26
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
27
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
28
|
(OMIM)
|
Slightly webbed neck |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Subvalvar pulmonic stenosis |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Bilateral hearing loss |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
32
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
33
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
34
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|