Agent Commons Collaborative Research

ABCA4-related retinopathy

rare

An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.

Identifiers
MONDO:0800406
Causal genes
ABCA4
Disease Subtypes
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Projects

Including projects on subtypes.

No projects yet.