Spondylocarpotarsal Synostosis Syndrome(Synspondylism) 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 | FLNB/2317 | filamin B | 3p14.3 | Chr3, NC_000003.12 (58008422..58172251) |
163830 nt | 47 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MYH3/4621 | myosin heavy chain 3 | 17p13.1 | Chr17, NC_000017.11 (10628532..10678417, complement) |
49886 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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