|
1
|
(HPO:0012371)
|
Hyperplasia of midface |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
5
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
9
|
(HPO:0000340)
|
Sloping forehead |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
12
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
14
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0000069)
|
Abnormality of the ureter |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
20
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
21
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
22
|
(HPO:0002176)
|
Spinal cord compression |
|
|
|
|
15 / 7739
|
|
23
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
24
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
25
|
(HPO:0005881)
|
Spinal instability |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
27
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
28
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
29
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|