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Results 1 - 10 of 16 for Intellectual "disability," autosomal dominant 38
  1. ... 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 ...
  2. ... copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and ... This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal ...
  3. ... in more than one copy, contribute to intellectual disability, delayed development, and the other signs ... 17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of ...
  4. ... 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 ...
  5. ... syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome ...
  6. ... condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). ...
  7. ... 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 ...
  8. ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
  9. ... identified physical or behavioral abnormalities.Developmental delay and intellectual disability can occur in people with a 16p11.2 ... duplication. chromosome 16 16p11.2 duplications have an autosomal dominant inheritance pattern, which means that a duplication in ...
  10. ... microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals ...
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