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

... 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 ...

... disorder. The parents of an individual with an autosomal recessive condition each carry one ... Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS ...

... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive ... Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2. Epub ...

... unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... deficiency. ACAD9 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 ...

... symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings. Sepiapterin reductase ...

... seen in some individuals with this type include intellectual disabilities, hearing loss, and a cherry-red spot. Children ... coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and intellectual disabilities that worsen over time. People with this form ...

... have neurological problems, which may include developmental delay, intellectual disability, difficulty with balance and coordination (ataxia), and muscle ...