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Intellectual "disability," autosomal dominant 34
- ... particular, problems with brain development likely contribute to intellectual disability, delayed development, and other neurological problems in people with the condition. HNRNPK This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...
- ... 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 ...
- ... growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty ... the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler ...
- ... Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet. 2017 Apr 6; ... Tsurusaki Y, Kurosawa K. Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D ...
- ... in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When ... by ACTG2 gene mutations is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...
- ... 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 ...
- ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
- ... s disease. Down syndrome, a condition characterized by intellectual disability and other health problems, occurs when a person ... familial Alzheimer's disease is inherited in an autosomal dominant pattern, which means one copy of an altered ...
