Heimler syndrome 2

Term ID

DOID:0080624

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. https://www.ncbi.nlm.nih.gov/pubmed/16530715

References

• OMIM:616617

Ontology

Human Disease   ( DOID:0080624 )