DFNMYP involves a combination of symptoms including conductive hearing loss, myopia, mental retardation, proteinuria and hematuria. Diagnosis is based on clinical features and laboratory test results.

Evidence from different studies suggest that DFNMYP is associated with mutations in SLITRK6 gene. SLITRK6 gene encodes a protein that regulates neurite outgrowth critical for normal hearing and vision.