Version: 8.0.0
Date: Tue Jan 28 2025
Heimler syndrome 2
DOID:0080624
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Heimler syndrome 2

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.
Synonyms
  • peroxisomal biogenesis disorder 4C
Cross References
Parent Terms
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None
Sources of Associations

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