The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on ...

Autosomal recessive nonsyndromic deafness is one of the most frequent forms of inherited hearing impairment. Over 30 autosomal recessive nonsyndromic hearing loss loci have been mapped, and 15 genes ...

Hereditary hearing impairment is genetically heterogeneous, exhibiting patterns of inheritance that include: autosomal recessive, autosomal dominant, X-linked and mitochondrial. Nonsyndromic deafness ...