|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0003097)
|
Short femur |
|
|
|
|
13 / 7739
|
|
3
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
4
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0010655)
|
Epiphyseal stippling |
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
7
|
(OMIM)
|
Severely shortened humeri |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Severely shorted femora |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Absent alkyl-DHAP synthase activity |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal plasma phytanic acid |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased erythrocyte plasmalogen |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|