... 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 ...

... myelin can lead to neurological problems such as intellectual disability and walking difficulties. The cause of the eye ... 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 ...

... in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When ... of intestinal pseudo-obstruction are inherited in an autosomal recessive pattern, which means both copies of the gene ...

... lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems ... and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. Classic galactosemia occurs ...

... disrupts brain development. Most affected children have severe intellectual disability and do not develop skills such as reaching ... unknown. ST3GAL5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... children with MPS III. This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental ... NAGLU SGSH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also ... syndrome. DDX11 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... vary from person to person. Affected individuals have intellectual disabilities that worsen with age. Over time, people with ... disorders. FUCA1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... and behavior problems, and in rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed ... syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause ...