Jeune syndrome - GRK2-related

Definition

A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene.

Also known as asphyxiating thoracic dystrophy - GRK2-related, GRK2-related Jeune syndrome, short rib polydactyly - GRK2 related, short rib thoracic dystrophy - GRK2 related — per MONDO