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peroxisome biogenesis disorder 14B
Summary
- 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.
- Super Class
- autosomal recessive disease peroxisomal biogenesis disorder
External Links
- Disease Ontology
- DOID:0081274
- Mondo Disease Ontology
- OMIM
