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Intellectual "disability," autosomal dominant 3
- ... often have delayed development and mild to moderate intellectual disability.Other common features of Shprintzen-Goldberg syndrome include ... another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg ...
- ... and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements ... development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett ...
- ... lead to problems in the urinary tract.Mild intellectual disability and developmental delay occur in about 50 percent ... that this condition is underdiagnosed.The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is ...
- ... addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as ... RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy ...
- ... before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities ... those with HDAC8 gene variants may have significant intellectual disability.In about 15 percent of cases, the cause ...
- ... the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ... BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear myopathy.Centronuclear myopathy caused ...
- ... and behavior problems, and in rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed ... that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although ...
- ... Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, ... the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance.Autosomal ...
- ... children.In very rare cases, delayed development and intellectual disability have been reported in people with the features ... CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
- ... normal range.People with Sotos syndrome often have intellectual disability, and most also have neurodevelopmental disorders. Conditions that ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
