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Intellectual "disability," autosomal recessive 24
- ... 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 ...
- ... speculate that problems with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... generalized lipodystrophy type 2 is sometimes associated with intellectual disability.In some people with congenital generalized ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... Rare Disorders (NORD) ClinicalTrials.gov ... with mental retardation (dysequilibrium syndrome). J Child Neurol. 2009 Oct;24(10):1310-5. doi: 10.1177/0883073809332696. Epub ...
- ... body (microcephaly). People with type II have severe intellectual ... autosomal recessive congenital methemoglobinemia type I have a normal life ...
- ... 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769. Citation on PubMed Gagnon C, Desrosiers J, Mathieu J. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, ...
- ... and severe facial clefting: expanding the spectrum of autosomal-recessive ... Am J Med Genet A. 2007 Dec 15;143A(24):3069-78. doi: 10.1002/ajmg.a.31963. ...
- ... 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 ...
