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Intellectual "disability," autosomal dominant 41
- ... disrupts normal brain development and leads to seizures, intellectual disability, and other features of encephalopathy that occur in this condition. KCNB1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 15 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features.In about 75 percent ...
- ... Tsurusaki Y, Kurosawa K. Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon. Brain Dev. 2019 Jun;41(6):538-541. doi: 10.1016/j.braindev. ...
- ... syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome ...
- ... 8 Recombinant 8 syndrome is inherited in an autosomal dominant pattern, which means one copy of the recombinant ...
- ... 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 ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting ... of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). While the deleted segment in ...
- ... of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, ...
- ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
