Peroxisome biogenesis disorder 5B

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 or compound heterozygous mutation in the PEX2 gene on chromosome 8q21.

Signs and symptoms

Rod-cone dystrophy
Joint hypermobility
Global developmental delay
Very long chain fatty acid accumulation
Decreased liver function
Dysmetria
Cerebellar atrophy
Ataxia
Generalized hypotonia
Nystagmus