|
1
|
(HPO:0001876)
|
Pancytopenia |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002974)
|
Radioulnar synostosis |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
7
|
(HPO:0005037)
|
Proximal radio-ulnar synostosis |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
9
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
10
|
(HPO:0000967)
|
Petechiae |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0000979)
|
Purpura |
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
13
|
(HPO:0001905)
|
Congenital thrombocytopenia |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0001915)
|
Aplastic anemia |
|
|
|
|
16 / 7739
|
|
15
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0003182)
|
Shallow acetabular fossae |
|
|
|
|
10 / 7739
|
|
18
|
(HPO:0005548)
|
Megakaryocytopenia |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
20
|
(HPO:0006394)
|
Limited pronation/supination of forearm |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
No chromosomal breakage |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Normal karyotype |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|