Arrhythmogenic Cardiomyopathy With Wooly Hair And Keratoderma(Carvajal syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Skin 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 | DSP/1832 | desmoplakin | 6p24.3 | Chr6, NC_000006.12 (7541671..7586714) |
45044 nt | 24 | 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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Clinical Symptoms & Disabilities