|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
9
|
(HPO:0003160)
|
Abnormal isoelectric focusing of serum transferrin |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0003316)
|
Butterfly vertebrae |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0003422)
|
Vertebral segmentation defect |
|
|
|
|
95 / 7739
|
|
12
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
13
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|