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Intellectual "disability," autosomal dominant 58
- ... multiple benign (noncancerous) bone tumors called osteochondromas and intellectual disability. These additional features are associated with the loss of genes near TRPS1. TRPS1 TRPS I is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... with the condition.TRPS II is considered an autosomal dominant condition because one copy of the altered chromosome ...
- ... limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the ... the disorder that have an inheritance pattern called autosomal dominant. Limb-girdle muscular dystrophy type 2 includes forms ...
- ... structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other ... Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
- ... typically associated with Gorlin syndrome, including delayed development, intellectual disability, overgrowth of the body (macrosomia), and other physical ...
- ... disease. GFAP This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.Some people with GEFS+ have seizure disorders of ... SCN1B SCN2A STX1B GEFS+ is inherited in an autosomal dominant pattern, which means one copy of the altered ...
