Autosomal recessive spastic ataxia encompasses a spectrum of early-onset neurodegenerative disorders most notably exemplified by ARSACS, in which biallelic mutations in the SACS gene lead to loss or ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

Jervell and Lange Nielsen syndrome (JLNS) is a rare cardio-auditory disorder with an autosomal recessive pattern of inheritance. JLNS was first reported in Norway in 1957. Bilateral sensorineural ...

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare condition characterized by mitochondrial fatty acid b-oxidation. It follows the autosomal recessive pattern of inheritance. When energy ...