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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |