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Additional findings_Paediatric v0.2 EFTUD2 Zornitza Stark Added phenotypes Mandibulofacial dysostosis with microcephaly for gene: EFTUD2
Additional findings_Paediatric v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly