Term Name:	Heimler syndrome 2
Synonyms:	peroxisomal biogenesis disorder 4C
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 compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
Ontology:	Human Disease [DOID:0080624]   ( DOID:0080624 )