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ID | DOID:0081274 |
Name | peroxisome biogenesis disorder 14B |
Definition | A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/22581968/, https://pubmed.ncbi.nlm.nih.gov/31724321/ |
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