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Results 1 - 9 of 9 for Intellectual developmental "disorder," autosomal dominant 72
  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. 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
  3. Potocki-Shaffer syndrome 
    ... of the PHF21A gene is the cause of intellectual disability and distinctive facial features in many people with the condition. The loss ... Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  4. 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
  5. Cherubism 
    ... alteration. SH3BP2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  6. Williams syndrome 
    ... with Williams syndrome.Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  7. Costello syndrome 
    ... symptoms. HRAS This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... syndrome. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Citation on PubMed
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  8. CACNA1A gene 
    ... Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  9. CHOPS syndrome 
    ... syndrome. AFF4 CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics