Doyne Honeycomb Retinal Dystrophy(Familial drusen) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Eye 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 | EFEMP1/2202 | EGF containing fibulin extracellular matrix protein 1 | 2p16.1 | Chr2, NC_000002.12 (55865967..55923782, complement) |
57816 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |