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Intellectual disability. Intellectual disability (ID), also known as general learning disability (in the United Kingdom [3]) and formerly mental retardation (in the United States [4]), [5][6] is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent ...
23 (2019) [1] Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] It is characterized by hypotonia, intellectual disability, and macrocephaly. [3] Children with JS may also have epilepsy or meet criteria for diagnosis with ...
ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is a non-inherited neurodevelopmental disorder caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene. [1][2] The hallmark features of the syndrome are intellectual disability, global developmental delays, global motor planning delays, and autism ...
Savant syndrome (/ ˈsævənt, sæˈvɑːnt / SAV-ənt, sə-VAHNT, US also / səˈvɑːnt / sav-AHNT) is a phenomenon where someone demonstrates exceptional aptitude in one domain, such as art or mathematics, despite significant social or intellectual impairment. [1]
Frequency. 1 in 5,000 to 1 in 10,000. 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location ...
Medical genetics. Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. [4][5] These features include a tall, thin stature and long, slender limbs. [5]
Neurological signs include poor muscle control and moderate intellectual disability. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting.
SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. [1][2] Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait. [3][4][5]