Version: 8.0.0
Date: Tue Jan 28 2025
peroxisome biogenesis disorder 14B
DOID:0081274
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
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