Retinal Dystrophy with Leukodystrophy (RDLKD)

Alias:
Rdlkd
Dystrophy, Retinal, with Leukodystrophy
Acbd5 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Dystrophy with Leukodystrophy, also known as rdlkd, is related to leukodystrophy and peroxisomal disease. An important gene associated with Retinal Dystrophy with Leukodystrophy is ACBD5 (Acyl-CoA Binding Domain Containing 5), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include pons, and related phenotypes are dysarthria and delayed speech and language development
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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15
71
3

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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