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Intellectual "disability," autosomal dominant 54
- ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 National Organization for Rare Disorders (NORD) DEVELOPMENTAL ...
- ... seizures (epilepsy), and some have mild to severe intellectual disability. The ... rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy- ...
- ... known as Pitt-Hopkins syndrome, such as severe intellectual disability and breathing problems, in addition to other features of distal 18q ... Distal 18q deletion syndrome is considered to be an autosomal dominant condition, which means one copy of the deleted ...
- ... PRKAB2 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.In at least ...
- ... Citation on PubMed Sweatt JD. Pitt-Hopkins Syndrome: intellectual ... syndrome. Dev Med Child Neurol. 2012 Oct;54(10):925-31. doi: 10.1111/j.1469- ...
- ... syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome ...
- ... and behavior problems, and in rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed ... that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... often have delayed development and mild to moderate intellectual disability.Other common features of Shprintzen-Goldberg syndrome include ... another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg ...
- ... in Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, ... alteration. SH3BP2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
