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Entry Name Description Category Pathway Gene
H02595 Oculoskeletodental syndrome ... growth, and occasionally hearing impairments. It has been reported that loss-of-function mutations in PIK3C2A cause this syndrome. PIK3C2A is a class II member of the phosphoinositide 3-kinase family of ... Congenital malformation PIK3C2A [HSA:5286] [KO:K00923]
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