In autosomal recessive inheritance, a child needs two copies of a gene variant — one from each parent — to develop a condition. Huntington’s disease, cystic fibrosis, ...

In autosomal recessive inheritance, a child must inherit two copies of the gene for RP — one from each parent — to develop the condition. This form of RP tends to cause symptoms early in life.

Autosomes, or autosomal DNA, make up 22 pairs of chromosomes in your body. Small variations in these genes determine your genetic makeup and whether you inherit certain traits and conditions.

Autosomal recessive cerebellar ataxia must be considered in any child or young adult ... usually with a multigenerational pattern. 1,2 X-linked inheritance suggests consideration of the fragile X ...

This apparent autosomal recessive inheritance adds to the clinical complexity of spastic paraplegia 3A and calls for caution using directed genetic screening in HSP.

Sickle cell anemia is an inherited condition that follows an autosomal recessive inheritance pattern. Even if you don’t have sickle cell anemia, you can be a carrier. Sickle cell anemia is a ...

Huntington’s disease-like 2 (mutation of JPH3 gene and autosomal dominant inheritance) McLeod syndrome (mutation of XK gene on X-chromosome and X-linked recessive inheritance) ...

Linkage analysis excluded a mutation in JAG1. Conclusions: We have identified a kindred with an Alagille-like syndrome with an autosomal recessive form of inheritance not caused by a mutation in JAG1.

Researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 receptor-associated kinase 4 (IRAK-4) due to an autosomal ...