|
1
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
4
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0000185)
|
Cleft soft palate |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0011819)
|
Submucous cleft soft palate |
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
8
|
(HPO:0000294)
|
Low anterior hairline |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
9
|
(HPO:0011305)
|
Partial absence of toe |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
12
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
14
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
15
|
(HPO:0000162)
|
Glossoptosis |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
18
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
19
|
(HPO:0001279)
|
Syncope |
|
|
|
|
94 / 7739
|
|
20
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
21
|
(HPO:0006682)
|
Ventricular extrasystoles |
|
|
|
|
25 / 7739
|
|
22
|
(HPO:0009087)
|
Posteriorly placed tongue |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
24
|
(HPO:0010185)
|
Aplasia/Hypoplasia of the distal phalanges of the toes |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Perodactyly |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Bigeminy |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Multifocal tachycardia |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
29
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
30
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
31
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
32
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|