Term Name: | high myopia-sensorineural deafness syndrome |
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Synonyms: | deafness and myopia, deafness and myopia syndrome, DFNMYP |
Definition: | A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. |
Ontology: | Human Disease [DOID:0111628] ( DOID:0111628 ) |