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Intellectual "disability," autosomal dominant 30
- ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National ...
- ... no history of the disorder in their family. Autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome PACS1- ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Autosomal dominant osteopetrosis is the most common form of the ...
- ... brain, neurons, and possibly other tissues, leading to intellectual disability and other signs and symptoms of Coffin-Siris syndrome. ... Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of ...
- ... copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and ... This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal ...
- ... in more than one copy, contribute to intellectual disability, delayed development, and the other signs ... 17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of ...
- ... that can be effectively managed with medication, approximately 30 percent of affected individuals have seizures that become resistant to medication.Psychiatric disorders, behavioral problems, and intellectual disabilities have been reported in some individuals with ADSHE. ...
- ... death of these neurons lead to uncontrolled movements, intellectual decline, and the other characteristic features of DRPLA. ATN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic Testing/Reference Desk ... Genetic Testing ... Birth Defects/Reference Desk ... Birth Defects ... Genetic Counseling/ ...
- ... disorder that have an inheritance pattern called autosomal dominant. ... for about 30 percent of cases. Dysferlinopathy, also called limb-girdle ...
(National Human Genome Research Institute) 