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BabyScreen+ newborn screening v0.0 | KPTN |
Zornitza Stark gene: KPTN was added gene: KPTN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures |