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Intellectual "disability," autosomal dominant 56
- ... of the PHF21A gene is the cause of intellectual disability and distinctive facial features in many people with the condition. The loss ... Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic ...
- ... condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first ... birth. Abnormal brain development is thought to underlie intellectual disability in people with Rubinstein-Taybi syndrome. Researchers have ...
- ... condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). ...
- ... stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later ... month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in ...
- ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
- ... and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... TAND). These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction (autism ...
