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Metadata
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/
Xrefs

MIM:614920

Parent Relationships

is_a peroxisomal biogenesis disorder

is_a autosomal recessive disease

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