|
1
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
2
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
|
5
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
6
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
7
|
(HPO:0006482)
|
Abnormality of dental morphology |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
9
|
(HPO:0010751)
|
Chin dimple |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
10
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
11
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
12
|
(HPO:0009465)
|
Ulnar deviation of finger |
Frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
15
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
16
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
17
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
18
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
20
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
21
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
22
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
23
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
24
|
(OMIM)
|
Flat malar configuration |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Palatal rugosity |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Wide-spaced second and third fingers |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
28
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
29
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
30
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
31
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
32
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|