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A reference for what the literature reports. Not medical advice.

Disease

Jeune syndrome - GRK2-related

MONDO:0100583Mondo

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Findings

No curated finding names Jeune syndrome - GRK2-related yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

Definition from the Mondo Disease Ontology (MONDO:0100583), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: Jeune syndrome

Other names

4 names

Resolves to: Jeune syndrome - GRK2-related

Also called: asphyxiating thoracic dystrophy - GRK2-relatedGRK2-related Jeune syndromeshort rib polydactyly - GRK2 relatedshort rib thoracic dystrophy - GRK2 related