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Additional findings_Paediatric v0.2 RPGRIP1L Zornitza Stark Added phenotypes Joubert syndrome for gene: RPGRIP1L
Additional findings_Paediatric v0.2 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome