Term Name:	Heimler syndrome 1
Synonyms:	Deafness-enamel hypoplasia-nail defects syndrome, peroxisomal biogenesis disorder 1C
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.
Ontology:	Human Disease [DOID:0080623]   ( DOID:0080623 )