Heimler syndrome 1 (DOID:0080623)
Alliance: disease page
Synonyms: Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C
Alt IDs: OMIM:234580
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 homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.