Term Name: | peroxisome biogenesis disorder 14B |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081274] ( DOID:0081274 ) |