DE SANCTIS-CACCHIONE SYNDROME(Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia) 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 | ERCC6/2074 | ERCC excision repair 6, chromatin remodeling factor | 10q11.23 | Chr10, NC_000010.11 (49434881..49539538, complement) |
104658 nt | 23 | 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