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Down syndrome is the most common genetic cause of intellectual disability. Among children, the cause of intellectual disability is unknown for one-third to one-half of cases. [11] About 5% of cases are inherited. [12] Genetic defects that cause intellectual disability, but are not inherited, can be caused by accidents or mutations in genetic ...
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms ...
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.
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 ...
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
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 ...
Temple–Baraitser syndrome (TBS) is a very rare autosomal dominant genetic disorder, characterised by intellectual disability, epilepsy, small or absent nail of the thumbs and great toes, and distinct craniofacial features.
If a person has 45-54 repeats this is considered the "gray zone" or borderline risk, 55-200 repeats is called premutation, and more than 200 repeats is considered a full mutation of the FMR1 gene according to the American College of Medical Genetics and Genomics. [23]