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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 ...
There are a variety of disabilities affecting cognitive ability.This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability (formerly called mental retardation), deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through ...
Early-onset parkinsonism-intellectual disability syndrome is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor developmental delays, macrocephaly, and Parkinson's disease which starts before the age of 45 (early onset PD). [1][2][3] Additional symptoms include epilepsy, strabismus, and frontal bossing.
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 ...
Individuals with this condition typically show severe intellectual disability, motor delays, severe speech delay and difficulties, infancy-onset hypotonia affecting the trunk, progressive hypertonia affecting the distal limbs, severe progressive microcephaly, autistic-like symptoms, aggressive behavior towards others and/or oneself, sleep abnormalities, and mild facial dysmorphisms such as a ...
A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown, according to a new study.
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]
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...