| Approved symbol | EFEMP1 |
|---|---|
| Approved name | EGF containing fibulin extracellular matrix protein 1 |
| HGCN ID | HGNC:3218 |
| Previous symbols | DHRD, FBNL |
| Inheritance | |
| OMIM | 601548 |
| Chromosome | 2p16.1 |
| Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Cutis laxa en gerelateerde aandoeningen NGS Glaucoom NGS Leber congenital amaurosis LCA NGS Marfan syndroom en andere marfanachtige beelden NGS Mendelioom NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |
