... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... disability syndrome National ...

... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... SYNDROME 1; WARBM1 WARBURG MICRO SYNDROME 3; WARBM3 WARBURG MICRO SYNDROME 2; WARBM2 WARBURG MICRO ...

... 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 ...

... 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 ...

... usual. Some affected individuals also have delayed development, intellectual ... called autosomal recessive cutis laxa type 3B (ARCL3B, which is also ...

... reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...