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Results 1 - 10 of 10 for MENTAL "RETARDATION," AUTOSOMAL DOMINANT 48
  1. ... no history of the disorder in their family. Mental retardation, autosomal dominant 29 MRD29 SETBP1 disorder SETBP1 LoF syndrome SETBP1 ... disorder SETBP1-related intellectual disability Genetic ... Intellectual developmental disorder, autosomal dominant 29 National ...
  2. ... syndrome. ZEB2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Hirschsprung disease-mental retardation syndrome Microcephaly, mental retardation, and distinct facial features, ...
  3. ... one adult subtype of NCL is inherited as autosomal dominant trait.
  4. ... affected children are much more likely to have intellectual disability, developmental delay, and learning ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
  5. ... and development and synaptic plasticity, leading to macrocephaly, intellectual disability, seizures, and other ... syndrome follows an autosomal dominant inheritance pattern, which means one copy of the ...
  6. ... FOXG1 chromosome 14 FOXG1 syndrome is considered an autosomal dominant condition, which means one copy of the altered ... FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental ... hypogenesis. J Med Genet. 2011 Jun;48(6):396-406. doi: 10.1136/jmg.2010. ...
  7. ... of the condition.Polymicrogyria can also have an autosomal dominant inheritance pattern, which means one copy of the ...
  8. ... DRPLA. ATN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
  9. ... syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome ...
  10. ... cause periventricular nodular heterotopia. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. ...