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Entry Name Description Category Pathway Gene
H00636 Tetra-amelia syndrome ... have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause ... Congenital malformation (TETAMS1) WNT3 [HSA:7473] [KO:K00312]
(TETAMS2) RSPO2 [HSA:340419] [KO:K23097]
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