|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0011902)
|
Abnormal hemoglobin |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
3
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
4
|
(HPO:0004331)
|
Decreased skull ossification |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
7
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
8
|
(HPO:0004760)
|
Congenital septal defect |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
9
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0004859)
|
Amegakaryocytic thrombocytopenia |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0005548)
|
Megakaryocytopenia |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Normal radii |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Severe thrombocytopenia (birth) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Elevated serum thrombopoietin (TPO) |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|