|
1
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
4
|
(HPO:0005978)
|
Type II diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
5
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
6
|
(HPO:0005107)
|
Abnormality of the sacrum |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
8
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0002949)
|
Fused cervical vertebrae |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
12
|
(HPO:0005487)
|
Prominent metopic ridge |
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0006897)
|
Cranial nerve VI palsy |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0008467)
|
Thoracic hemivertebrae |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0011349)
|
Abducens palsy |
|
|
|
|
7 / 7739
|
|
17
|
(MedDRA:10056659)
|
Sacral hypoplasia |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|