high myopia-sensorineural deafness syndrome

Term ID

DOID:0111628

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. (2)

References

• GARD:12844
• OMIM:221200
• ORDO:363396

Ontology

Human Disease   ( DOID:0111628 )