Heimler syndrome-1, which represents the mildest end of the peroxisomal biogenesis disorder spectrum , is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities.
Heimler syndrome-1 is caused by homozygous or compound heterozygous mutations in the PEX1 gene (602136) on chromosome 7q21. Another form of Heimler syndrome (Heimler syndrome-2) is caused by mutation in the PEX6 gene (601498) on chromosome 6p21.
