Genetic disorder (redirect from Autosomal-recessive disease)
who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic...
35 KB (3,579 words) - 23:00, 21 August 2024
Retinitis pigmentosa (redirect from Autosomal dominant retinitis pigmentosa)
RLBP1 (autosomal recessive, Bothnia type RP) RP1 (autosomal dominant, RP1) RHO (autosomal dominant, RP4) RDS (autosomal dominant, RP7) PRPF8 (autosomal dominant...
63 KB (6,440 words) - 22:03, 21 August 2024
a contrived acronym for Autosomal-dominant Compelling Helio-Ophthalmic Outburst) is an inherited and congenital autosomal dominant reflex condition...
19 KB (2,347 words) - 03:41, 7 April 2024
Dominance (genetics) (redirect from Autosomal dominant)
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...
24 KB (2,497 words) - 23:00, 29 August 2024
CADASIL (redirect from Cerebral Autosomal Dominant Arteriopathy Subcortical Infarcts and Leukoencephalopathy)
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common...
19 KB (1,899 words) - 06:05, 20 June 2024
Ichthyosis (redirect from Autosomal recessive congenital ichthyosis)
underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes from the Greek ἰχθύς ichthys, literally...
14 KB (964 words) - 10:28, 15 July 2024
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...
48 KB (5,759 words) - 18:57, 13 August 2024
Trisomy (redirect from Autosomal trisomy)
sometimes characterised as "autosomal trisomies" (trisomies of the non-sex chromosomes) and "sex-chromosome trisomies." Autosomal trisomies are described...
6 KB (566 words) - 14:56, 24 July 2024
Osteopetrosis (redirect from Osteopetrosis autosomal dominant type 1)
Mutations in the CLCN7 gene cause most cases of autosomal dominant osteopetrosis, 10-15% of cases of autosomal recessive osteopetrosis (the most severe form)...
26 KB (2,742 words) - 19:55, 23 August 2024