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Entry Name Description Category Pathway Gene
H02686 Developmental delay with dysmorphic facies and dental anomalies ... with dysmorphic facies and dental anomalies (DEFDA) is a neurodevelopmental disorder associated with SATB1 dysfunction. SATB1 encodes a transcription factor with crucial roles in development and maturation ... Congenital malformation (DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225]
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