Heimler syndrome 2

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

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.

Signs and symptoms

• Amelogenesis imperfecta
• Sensorineural hearing impairment
• Beau's lines
• Dental crowding
• Pes planus
• Leukonychia
• Global developmental delay

Also known as: peroxisomal biogenesis disorder 4C