Sclerosteosis(Cortical hyperostosis-syndactyly syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SOST/50964 | sclerostin | 17q21.31 | Chr17, NC_000017.11 (43753738..43758791, complement) |
5054 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | LRP4/4038 | LDL receptor related protein 4 | 11p11.2 | Chr11, NC_000011.10 (46856717..46918550, complement) |
61834 nt | 41 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities