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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)Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
- ... 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 ...
- ... in their legs (paraparesis), muscle twitches (myoclonus), or intellectual disability.People with transcobalamin deficiency often develop a blood ... problems. TCN2 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 ...
- ... 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 ...
