Peroxisome biogenesis disorder 11B

info · Genetic

A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.

Signs and symptoms

Visual loss
Hearing impairment
Feeding difficulties
Hypotonia
Muscle weakness
Progressive muscle weakness
Cataract
Respiratory tract infection
Hepatosplenomegaly