Version: 8.0.0
Date: Tue Jan 28 2025
Heimler syndrome 1
DOID:0080623
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Heimler syndrome 1

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.
Synonyms
  • Deafness-enamel hypoplasia-nail defects syndrome
  • peroxisomal biogenesis disorder 1C
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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