Weaver Syndrome(Camptodactyly-overgrowth-unusual facies syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Developmental / Cancer category
Candidate Gene Information
An Autosomal dominant mode(s) within the Developmental / Cancer category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | EZH2/2146 | enhancer of zeste 2 polycomb repressive complex 2 subunit | 7q36.1 | Chr7, NC_000007.14 (148807383..148884291, complement) |
76909 nt | 26 | 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