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 2.0

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 1.0

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