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Intellectual "disability," autosomal dominant 15
- ... 15 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features.In about 75 percent ...
- ... dominant 62 SHINE syndrome sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome ... Associated with PSD-95 and Its Interaction Partners. Int J Mol Sci. 2022 Apr 15;23(8):4390. doi: 10.3390/ijms23084390. Citation ...
- ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
- ... no history of the disorder in their family. Autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome PACS1- ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Autosomal dominant osteopetrosis is the most common form of the ...
- ... 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 ...
- ... brain, neurons, and possibly other tissues, leading to intellectual disability and other signs and symptoms of Coffin-Siris syndrome. ... Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of ...
- ... autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...
- ... copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and ... This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal ...
