Heimler syndrome 2 (DOID:0080624)
Alliance: disease page
Synonyms: peroxisomal biogenesis disorder 4C
Alt IDs: OMIM:616617
Definition: A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.