alleles from parents. Autosomal genetic disorders which exhibit Mendelian inheritance can be inherited either in an autosomal dominant or recessive fashion...

who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic...

RLBP1 (autosomal recessive, Bothnia type RP) RP1 (autosomal dominant, RP1) RHO (autosomal dominant, RP4) RDS (autosomal dominant, RP7) PRPF8 (autosomal dominant...

a contrived acronym for Autosomal-dominant Compelling Helio-Ophthalmic Outburst) is an inherited and congenital autosomal dominant reflex condition...

of the genes, either new (de novo) or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes...

CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common...

underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes from the Greek ἰχθύς ichthys, literally...

caused by an autosomal dominant or autosomal-recessive mutation in the gene EDNRB. Type 4B is caused by an autosomal dominant or autosomal-recessive mutation...

sometimes characterised as "autosomal trisomies" (trisomies of the non-sex chromosomes) and "sex-chromosome trisomies." Autosomal trisomies are described...

Mutations in the CLCN7 gene cause most cases of autosomal dominant osteopetrosis, 10-15% of cases of autosomal recessive osteopetrosis (the most severe form)...