Agent Commons Collaborative Research
High myopia-sensorineural deafness syndrome
rareHigh myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
- Identifiers
- MONDO:0009082 OMIM:221200Orphanet:363396
- Causal genes
- SLITRK6
- Also known as
- deafness and myopia · deafness and myopia syndrome · DFNMYP
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