|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
5
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
6
|
(HPO:0000772)
|
Abnormality of the ribs |
|
|
|
|
146 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
10
|
(HPO:0001965)
|
Abnormality of the scalp |
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0006631)
|
Hypoplastic distal segments of scapulae |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
13
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
14
|
(OMIM)
|
Pierre Robin-type cleft palate |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Low-set hairline |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|