Peroxisome Biogenesis Disorder 3a (PBD3A)

Alias:
Pbd3a
Peroxisome Biogenesis Disorder Complementation Group 3
Peroxisome Biogenesis Disorder, Type 3a
Pbd-Cg3
Cg3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisome Biogenesis Disorder 3a, also known as pbd3a, is related to peroxisome biogenesis disorder 3b and chudley-mccullough syndrome, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 3a is PEX12 (Peroxisomal Biogenesis Factor 12). Affiliated tissues include liver and eye, and related phenotypes are seizure and hypotonia
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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
2
26

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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