Ehlers-Danlos Syndrome, Musculocontractural Type(Musculocontractural Ehlers-Danlos 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 | CHST14/113189 | carbohydrate sulfotransferase 14 | 15q15.1 | Chr15, NC_000015.10 (40470984..40473158) |
2175 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DSE/29940 | dermatan sulfate epimerase | 6q22.1 | Chr6, NC_000006.12 (116254171..116444861) |
190691 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |