1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
2
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
3
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
4
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
5
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
6
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
7
|
(HPO:0100335)
|
Non-midline cleft lip |
|
|
|
|
12 / 7739
|
8
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
9
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
10
|
(HPO:0005772)
|
Aplasia/Hypoplasia of the tibia |
|
|
|
|
2 / 7739
|
11
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
12
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
13
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
14
|
(HPO:0001841)
|
Preaxial foot polydactyly |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
15
|
(HPO:0002566)
|
Intestinal malrotation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
16
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
17
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
18
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
19
|
(HPO:0002190)
|
Choroid plexus cyst |
|
|
|
|
5 / 7739
|
20
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
21
|
(HPO:0007291)
|
Posterior fossa cyst |
|
|
|
|
10 / 7739
|
22
|
(OMIM)
|
Posterior fossa cyst. Choroid plexus cyst. |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Absent/hypoplastic tibia. Bowed radius and ulna. Postaxial polydactyly of hands. Postaxial polydactyly of feet. Preaxial polydactyly of feet. Clubfoot. |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Absent diaphragm. |
|
|
|
|
1 / 7739
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
26
|
(HPO:0100702)
|
Arachnoid cyst |
|
|
|
|
15 / 7739
|