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Additional findings_Paediatric v0.2 | CREBBP | Zornitza Stark Added phenotypes Rubinstein-Taybi syndrome for gene: CREBBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | CREBBP |
Zornitza Stark gene: CREBBP was added gene: CREBBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome |