Leukoencephalopathy, Cystic, Without Megalencephaly (LCWM)

Leukoencephalopathy, Cystic, Without Megalencephaly(来自ICD-11)
别称:
Cystic Leukoencephalopathy Without Megalencephaly
Rnaset2-Deficient Cystic Leukoencephalopathy
Clwm
Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy
Lcwm
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Basic Information
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References Literature
Leukoencephalopathy, Cystic, Without Megalencephaly, also known as cystic leukoencephalopathy without megalencephaly, is related to rnase t2-deficient leukoencephalopathy and megalencephaly. An important gene associated with Leukoencephalopathy, Cystic, Without Megalencephaly is RNASET2 (Ribonuclease T2), and among its related pathways/superpathways is Pathways of nucleic acid metabolism and innate immune sensing. Affiliated tissues include temporal lobe and brain, and related phenotypes are nystagmus and ataxia
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参考文献
MALACARDS
AR
Newborn
<1/1000000
10
31
4

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