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Hereditary Hearing Loss Homepage

Heimler Syndrome

Locus (OMIM)Gene (OMIM)InheritanceKey Locus References (PubMed)Key Gene References (PubMed)
Evidence (ClinGen)
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HMLR1PEX1Autosomal RecessiveRatbi et al., 2015Ratbi et al., 2015Definitive
HMLR2PEX6Autosomal RecessiveRatbi et al., 2015Ratbi et al., 2015Definitive
unassignedPEX26Autosomal RecessiveNeuhaus et al., 2017Neuhaus et al., 2017not reviewed

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