Term Name: high myopia-sensorineural deafness syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome