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Intellectual "disability," autosomal recessive 34
- ... 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 ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Muscular Dystrophy Association
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... ganglia, which are regions that help control movement. Intellectual disability may also occur.The severity of glutaric acidemia ... I. GCDH 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 ...
