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Additional findings_Paediatric v0.2 CSTB Zornitza Stark Added phenotypes Epilepsy, progressive myoclonic 1A for gene: CSTB
Additional findings_Paediatric v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A