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Results 1 - 9 of 9 for Intellectual developmental "disorder," autosomal dominant 73
  1. Bannayan-Riley-Ruvalcaba syndrome 
    ... of Bannayan-Riley-Ruvalcaba syndrome, such as macrocephaly, developmental delay, and muscle and skeletal ... Bannayan-Ruvalcaba-Riley syndrome Bannayan-Zonana syndrome BRRS ...
    https://medlineplus.gov/.../bannayan-riley-ruvalcaba-syndrome - Genetics
  2. Early-onset isolated dystonia 
    ... Organization for Rare Disorders (NORD) DYSTONIA 1, TORSION, ... classification of dystonia: a consensus update. Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May ...
    https://medlineplus.gov/.../condition/early-onset-isolated-dystonia - Genetics
  3. Smith-Kingsmore syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  4. 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
  5. 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
  6. 16p11.2 duplication 
    ... duplication. chromosome 16 16p11.2 duplications have an autosomal dominant inheritance pattern, which means that a duplication in ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  7. Nonsyndromic holoprosencephaly 
    ... NODAL TDGF1 Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  8. Alternating hemiplegia of childhood 
    ... ATP1A3 Alternating hemiplegia of childhood is considered an autosomal dominant condition, which means one copy of the altered ...
    https://medlineplus.gov/.../alternating-hemiplegia-of-childhood - Genetics
  9. 22q11.2 duplication 
    ... The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two ...
    https://medlineplus.gov/genetics/condition/22q112-duplication - Genetics