... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... 2 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...

... may help explain why congenital generalized lipodystrophy type 2 is sometimes associated with intellectual disability.In some ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... National Organization for Rare Disorders (NORD) ...

... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...

... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than ...

... addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...

... other features of SPENCDI, including movement disorders and intellectual disability, is currently unknown. ACP5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... not show signs and symptoms of the condition. ... Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome ...

... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...

... disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition. GCH1 PCBD1 PTS QDPR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...