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...

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...

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...

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

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

in two types based on the onset: Isolated Familial (autosomal recessive) microcephaly Autosomal dominant microcephaly X-linked microcephaly Chromosomal...

having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD)...

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

different types of genealogical research: autosomal (atDNA), mitochondrial (mtDNA), and Y-chromosome (Y-DNA). Autosomal tests may result in a large number of...

Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull,...

thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described...

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...

EDAR and EDARADD mutations can have an autosomal dominant or autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of...

Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital...

Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA is a genetically inherited...

Autosomal recessive cerebellar ataxia (Orphanet 3711) describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance...

(January 2010). "Inferring Continental Ancestry of Argentineans from Autosomal, Y-Chromosomal and Mitochondrial DNA". Annals of Human Genetics. 74 (1):...

Hydrocephalus is a condition in which cerebrospinal fluid (CSF) builds up within the brain, which can cause pressure to increase in the skull. Symptoms...

Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion. Musician Patrick Henry Hughes has...

follows general inheritance rules and can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner. The mode of inheritance...

families can be traced to a single town in Eastern Turkey. Clusters of the autosomal recessive form have also been documented in Oman and Czechoslovakia. The...

extra autosomal chromosomes among live births are 21, 18 and 13. Chromosome abnormalities are detected in 1 of 160 live human births. Autosomal aneuploidy...

make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent...

scoliosis. The inheritance pattern is autosomal, but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be...

distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data". American Journal of Human Genetics. 66 (3): 979–988...

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is disease of the arteries in the brain, which causes...

Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light...

observed in MVP. Mitral valve prolapse is a genetically heterogeneous autosomal dominant trait, which can be passed down from one parent to child, who...