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Results 1 - 7 of 7 for Intellectual developmental "disorder," autosomal dominant 70
  1. 22q11.2 duplication 
    ... The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two copies of chromosome 22 in each cell. About 70 percent of affected individuals inherit the duplication from ...
    https://medlineplus.gov/genetics/condition/22q112-duplication - Genetics
  2. PURA syndrome 
    ... and impair the function of neurons, leading to developmental problems and seizures in people with the condition. ... copy of the altered gene in each cell is sufficient to cause the disorder.Most cases of this condition result from new ( ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  3. Epilepsy-aphasia spectrum 
    ... seizures (epilepsy), and some have mild to severe intellectual disability. The ... rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy- ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  4. Chromosome 22 
    ... on 22q11. Am J Hum Genet. 2002 May;70(5):1077-88. doi: 10.1086/340363. Epub 2002 ... W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  5. 22q11.2 deletion syndrome 
    ... the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler ... inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  6. ELN gene 
    ... variants cause a form of the condition called autosomal dominant cutis laxa type 1 (ADCL1), which is characterized ... Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  7. GLUT1 deficiency syndrome 
    ... SLC2A1 This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics