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Human Disease

Heimler syndrome 1

Term ID
DOID:0080623
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. https://www.ncbi.nlm.nih.gov/pubmed/26387595
References
Ontology
Human Disease   ( DOID:0080623 )
Relationships
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Genes Involved
Zebrafish Models