Deafness-lymphedema-leukemia Syndrome(Emberger syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Immune 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 | GATA2/2624 | GATA binding protein 2 | 3q21.3 | Chr3, NC_000003.12 (128479422..128493201, complement) |
13780 nt | 8 | 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 | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |