Isolated Arhinencephaly

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

SHH, TDGF1, TWSG1, GAS1, GLI2, NODAL, SIX3, TGIF1, GLI3, TBC1D24, SMOC1, IFIH1, RNASEH2B, ADAR, FUZ, SAMHD1, VANGL1, RNASEH2C, HYLS1, JMJD1C, VAC14, SEC24C, TREX1, RNASEH2A, SF3B4, FIG4, ARVCF, UFD1, HIRA, TBX1

Drugs

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Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.