Peroxisome biogenesis disorder 6B

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 compound heterozygous mutation in the PEX10 gene on chromosome 1p36.

Signs and symptoms

Cerebellar atrophy
Hypotonia
Ataxia
Delayed menarche
Nystagmus
Elevated circulating phytanic acid concentration
Motor axonal neuropathy
Unsteady gait
Leukodystrophy
Dysmetric saccades