Peroxisome biogenesis disorder 10B

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 PEX3 gene on chromosome 6q24.

Signs and symptoms

Nephrocalcinosis
Neurogenic bladder
Axial hypotonia
Focal clonic seizure
Global developmental delay
Inverted nipples
Appendicular hypotonia
Cataract
Nystagmus
High forehead