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Features include always present findings: Nephrocalcinosis, Neurogenic bladder, Axial hypotonia, and Focal clonic seizure and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Focal clonic seizure, Global developmental delay, Spastic paraplegia |
PEX3 function has not been fully characterized.
Peroxisome biogenesis disorder 10B is associated with mutations in the PEX3 gene on chromosome 6.
Genetic testing for PEX3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 14 always present features.
No clinical trials have been registered for peroxisome biogenesis disorder 10B.
3 publications have been identified in PubMed for peroxisome biogenesis disorder 10B. Research spans Basic Science / Preclinical (67%) and Gene Therapy / Novel Therapeutics (33%).
Oh J (2025). [PMID: 39824813](https://pubmed.ncbi.nlm.nih.gov/39824813/). *Nature communications*. [Gene Therapy / Novel Therapeutics]
Koyano F (2024). [PMID: 39472561](https://pubmed.ncbi.nlm.nih.gov/39472561/). *Nature communications*. [Basic Science / Preclinical]
Sun JT (2024). [PMID: 38951640](https://pubmed.ncbi.nlm.nih.gov/38951640/). *Communications biology*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC
Online Mendelian Inheritance in Man
2 |
Axial hypotonia, Appendicular hypotonia |
Eyes | 2 | Cataract, Nystagmus |
Kidneys and urinary system | 1 | Nephrocalcinosis |
Age of onset: childhood.
AI-curated news mentioning peroxisome biogenesis disorder 10B
Updated May 18, 2026
A case report highlights early hypotonia and visual regression as initial symptoms of peroxisome biogenesis disorder in an Egyptian patient. This discovery may enhance awareness and diagnostic approaches for this rare condition.