Human genes for Heimler syndrome 2
Heimler syndrome 2 [DOID:0080624]
A peroxisomal biogenesis disorder that is characterised 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.
Synonyms: Heimler syndrome 2, DOID:0080624, peroxisomal biogenesis disorder 4C