Weill-Marchesani Syndrome(Mesodermal dysmorphodystrophy congenital) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant, 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 | ADAMTS10/81794 | ADAM metallopeptidase with thrombospondin type 1 motif 10 | 19p13.2 | Chr19, NC_000019.10 (8580240..8610715, complement) |
30476 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FBN1/2200 | fibrillin 1 | 15q21.1 | Chr15, NC_000015.10 (48408313..48645709, complement) |
237397 nt | 68 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | LTBP2/4053 | latent transforming growth factor beta binding protein 2 | 14q24.3 | Chr14, NC_000014.9 (74498183..74612237, complement) |
114055 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities