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high myopia-sensorineural deafness syndrome
Summary
- Synonym
-
- DFNMYP
- deafness and myopia
- deafness and myopia syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111628
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
