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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01678 | Dandy-Walker syndrome | ... have mental retardation, and some have hydrocephalus. It has been suggested that heterozygous loss of ZIC1 and ZIC4 is the cause of this disease. Various managements of DWS have been reported from open excision ... | Congenital malformation |
ZIC1 [HSA:7545] [KO:K09224] ZIC4 [HSA:84107] [KO:K09225] |
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| H02160 | Craniosynostoses | Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape. | Congenital malformation |
(CRS1) TWIST1 [HSA:7291] [KO:K09069] (CRS2) MSX2 [HSA:4488] [KO:K09341] (CRS3) TCF12 [HSA:6938] [KO:K15603] (CRS4) ERF [HSA:2077] [KO:K09434] (CRS5) ALX4 [HSA:60529] [KO:K09451] (CRS6) ZIC1 [HSA:7545] [KO:K09224] (CRS7) SMAD6 [HSA:4091] [KO:K04677] |
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