Infantile Cerebellar-Retinal Degeneration (ICRD)

Infantile Cerebellar-Retinal Degeneration(来自ICD-11)
别称:
Icrd
Degeneration, Cerebellar-Retinal, Infantile
Infantile Cerebellar Retinal Degeneration
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Basic Information
Medical Symptom
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References Literature
Infantile Cerebellar-Retinal Degeneration, also known as icrd, is related to optic atrophy 9 and autosomal recessive isolated optic atrophy, and has symptoms including ataxia, athetosis and seizures. An important gene associated with Infantile Cerebellar-Retinal Degeneration is ACO2 (Aconitase 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glucose / Energy Metabolism. Affiliated tissues include eye and brain, and related phenotypes are ataxia and intellectual disability, severe
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参考文献
MALACARDS
AR
Newborn
<1/1000000
16
78
13

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