Peroxisome Biogenesis Disorder 8b (PBD8B)

Alias:
Pbd8b
Peroxisome Biogenesis Disorder, Type 8b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisome Biogenesis Disorder 8b, is also known as pbd8b, and has symptoms including ataxia, constipation and paraparesis, spastic. An important gene associated with Peroxisome Biogenesis Disorder 8b is PEX16 (Peroxisomal Biogenesis Factor 16). Affiliated tissues include liver and brain, and related phenotypes are very long chain fatty acid accumulation and elevated circulating phytanic acid concentration
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
5
4

Medical Symptom

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Description
HPO Frequency
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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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