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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- ...
- ... characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition ... cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed. Koolen-de ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
- ... 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 ...
- ... that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although ... genetic cause of these cases is unknown. In autosomal dominant inheritance, one copy of the altered gene in ...
- ... may have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually ... the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
