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Intellectual "disability," autosomal dominant "55," with seizures
- ... people with conditions in this spectrum develop recurrent seizures (epilepsy), ... rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy- ...
- ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National ...
- ... known as Pitt-Hopkins syndrome, such as severe intellectual disability and breathing problems, in addition to other features of distal 18q ... Distal 18q deletion syndrome is considered to be an autosomal dominant condition, which means one copy of the deleted ...
- ... may have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak ...
- ... function of neurons, leading to developmental problems and seizures in people with the condition. PURA This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... abnormalities likely contribute to the movement problems and intellectual disability that are common in MCTT syndrome. Less common features of MCTT syndrome include hearing loss, seizures, abnormal curvature of the spine, and heart abnormalities. ...
- ... such as sitting, crawling, walking, and speaking, and intellectual disability that can range from mild to severe. In particular, vocabulary and the production of speech (expressive language skills) may be delayed. Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur ...
- ... symptoms. HRAS This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
