Isolated Dandy-Walker Malformation
Watchlist
Retrieved
2021-01-23
Source
Trials
—
Genes
FOXC1,
NID1,
EXOC3L2,
DWS,
ZIC1,
ZIC4,
ZNF423,
USP9X,
BUB1B,
EBP,
DHCR7,
MKS1,
SUFU,
WDR60,
FLVCR2,
CEP55,
POMGNT1,
CHD7,
KLHL7,
SMG9,
RPGRIP1,
TMEM216,
ATP6V1A,
WDPCP,
PSAT1,
ARID1B,
POMT2,
CCDC22,
B9D1,
NPHP3
FOXC1,
NID1,
EXOC3L2,
DWS,
ZIC1,
ZIC4,
ZNF423,
USP9X,
BUB1B,
EBP,
DHCR7,
MKS1,
SUFU,
WDR60,
FLVCR2,
CEP55,
POMGNT1,
CHD7,
KLHL7,
SMG9,
RPGRIP1,
TMEM216,
ATP6V1A,
WDPCP,
PSAT1,
ARID1B,
POMT2,
CCDC22,
B9D1,
NPHP3,
PHGDH,
C2CD3,
PIGN,
ATP6V0A2,
RPGRIP1L,
POLR3A,
B4GAT1,
TBC1D24,
PIEZO2,
WDR35,
CC2D2A,
KIF7,
DOK7,
HYLS1,
ARID2,
ASXL1,
CEP120,
B3GALNT2,
EVC2,
WDR81,
TMEM67,
WDR34,
POMGNT2,
TMEM107,
POMK,
KIAA1109,
TMEM47,
B9D2,
CEP290,
TCTN2,
CSPP1,
DYNC2H1,
TMEM231,
FKRP,
FTO,
TMEM237,
MARK4,
IFT80,
MAGED2,
RXYLT1,
POMT1,
HRAS,
RAPSN,
PPP1CB,
PMM2,
PLG,
ATP6V1E1,
NRAS,
MYOD1,
MUSK,
MAB21L1,
KRAS,
ITPR1,
GLI3,
SMARCA4,
GPC3,
B4GALT1,
FGFR1,
GPC4,
FKTN,
EVC,
DPH1,
DAG1,
COL4A1,
CHN1,
BUB1,
DPF2,
NUP88,
SMARCB1,
RNF113A,
WASHC5,
KIAA0586,
SEMA3E,
CEP57,
TRIP13,
LARGE1,
BUB3,
OFD1,
ARID1A,
SMARCC2,
CRPPA,
SMARCE1,
SOX4,
SOX11,
SLC35A2,
WFS1,
ZIC2,
LAMC2,
CSF2,
MIF,
FLNA,
MMRN1,
PHF14,
NPHP1,
SIL1,
AP1S2,
LBP,
ZIC5,
GJB2,
COG8,
FGF17,
NDUFA4,
ZNF124,
KMT2D,
NXPH1,
LAMC1,
IL18
Drugs
—
Registered!
Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.