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.
Farag et al. (1993) screened 400 institutionalized mentally retarded patients in Kuwait (IQ less than 50) of whom one patient was found to be suffering from cochlear deafness with myopia and intellectual impairment.