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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02487 | Diencephalic-mesencephalic junction dysplasia syndrome | Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial ... | Congenital malformation |
(DMJDS1) PCDH12 [HSA:51294] [KO:K16499] (DMJDS2) GSX2 [HSA:170825] [KO:K09310] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |