Heimler syndrome 1

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 homozygous or compound heterozygous mutati

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 homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.

Signs and symptoms

• Amelogenesis imperfecta
• Sensorineural hearing impairment
• Enamel hypoplasia
• Retinal pigment epithelial mottling
• Beau's lines
• Leukonychia
• Macular dystrophy
• Intellectual disability

Also known as: peroxisomal biogenesis disorder 1C