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Entry Name Description Category Pathway Gene
H02747 Oculogastrointestinal neurodevelopmental syndrome ... syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global developmental delay, dysmorphic features, endocrine ... Congenital malformation CAPN15 [HSA:8449] [KO:K12813]
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