EGFLAM

EGF like, fibronectin type III and laminin G domains
OMIM: 617683, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber EGFLAM in Mendeliome


Version 1.4044

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital stationary night blindness MONDO:0016293, EGFLAM-related

Amber EGFLAM in Congenital Stationary Night Blindness


Level 2: Ophthalmological disorders
Version 0.24

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital stationary night blindness MONDO:0016293, EGFLAM-related