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

• OMIM:234580

Ontology

Human Disease   ( DOID:0080623 )