... 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 ...

... epilepsy as well as mild developmental delay and intellectual disability. Only one case of the adult form has ... symptoms began in mid-adulthood and included mild intellectual disability; difficulty coordinating movements (ataxia); and numbness, tingling, and ...

... A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the ... mutations. POR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at ... death. TRPM6 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 ...

... problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and ... brain. GAMT This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause ... cell is sufficient to cause the disorder. In autosomal recessive inheritance, both copies of the gene in each ...