Ehlers-Danlos Syndrome, Musculocontractural Type 1(EDSMC1) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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 |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities