... 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 ...

... of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency. DDC 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 ...

... can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of ... deficiency who survive past early childhood often have intellectual disability and may develop seizures. Rare signs and symptoms ...

... as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). ...

... 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 ...