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Reference

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A reference for what the literature reports. Not medical advice.

Disease

cone-rod dystrophy and hearing loss

MONDO:0014980Mondo

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Findings

No curated finding names cone-rod dystrophy and hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

CEP78HGNC:25740
- Definitive · G2P · Autosomal recessive · 2025
- Strong · ClinGen · Unknown · 2017

Where it sits

A kind of: hereditary disease
Narrower terms (2): cone-rod dystrophy and hearing loss 1
cone-rod dystrophy and hearing loss 2

Other names

2 names

Resolves to: cone-rod dystrophy and hearing loss

Also called: cone-rod dystrophy and hearing loss; CRDHLCRDHL