keywords AUTOSOMAL RECESSIVE DEAFNESS CGMP-GATED CHANNEL CONE-ROD DYSTROPHY Clinical Neurology DOMINANT CONGENITAL CATARACT Developmental Biology HETEROZYGOUS MISSENSE MUTATION HUMAN NONSYNDROMIC DEAFNESS Life Sciences & Biomedicine NON-SYNDROMIC DEAFNESS Neurosciences Neurosciences & Neurology OF-FUNCTION MUTATIONS PROGRESSIVE HEARING-LOSS Science & Technology TRANSCRIPTION FACTOR GENE