|
1
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
4
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
7
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001836)
|
Camptodactyly of toe |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0004570)
|
Increased vertebral height |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0006417)
|
Broad femoral metaphyses |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
14
|
(HPO:0100777)
|
Exostoses |
|
|
|
|
32 / 7739
|
|
15
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
18
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
19
|
(HPO:0030431)
|
Osteochondroma |
|
|
|
|
2 / 7739
|