Term Name: peroxisome biogenesis disorder 14B
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 )

Relationships
is a type of: autosomal recessive disease peroxisomal biogenesis disorder