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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 ...
- ... 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 ...
- ... disorder that have an inheritance pattern called autosomal dominant. ... for about 30 percent of cases. Dysferlinopathy, also called limb-girdle ...
- ... syndrome rather than a more severe condition.Nearly 30 to 40 percent of people with Rubinstein-Taybi syndrome do not ... This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of ...
- ... delay-facial dysmorphism syndrome due to MED13L deficiency Intellectual disability and distinctive facial features with or without cardiac defects MED13L haploinsufficiency syndrome MED13L-related intellectual disability MRFACD Genetic Testing Registry: Cardiac anomalies - developmental delay - ...
