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Heimler syndrome 2

Synonyms
PEROXISOME BIOGENESIS DISORDER 4C

Summary

Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (234580). [from OMIM]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1, PEX6
    Summary: peroxisomal biogenesis factor 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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