Symptom Information: Sort according to HPO 

1
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
2
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
3
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
4
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
5
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
6
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
7
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
8
 (HPO:0000519) Congenital cataract 73 / 7739
9
 (OMIM) Progressive scoliosis 6 / 7739
10
 (OMIM) Absent leg 1 / 7739
11
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739