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DO Term : high myopia-sensorineural deafness syndrome [DOID:0111628] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:12844,
  • deafness and myopia syndrome,
  • ORDO:363396,
  • 221200,
  • DFNMYP,
  • deafness and myopia,
  • OMIM:221200
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