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Decision-making regarding social situations in people with intellectual disability at different stages of the decision-making process
Decision-making capability is essential in fulfilling the need for autonomy of people with intellectual disability. In this study we aimed to examine...
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X-Linked CNV in Pathogenetics of Intellectual Disability
AbstractThe review considers monogenic and chromosomal mutations associated with X-linked intellectual disability. Peculiarities of the development...
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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID...
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A novel variant in NSUN2 causes intellectual disability in a Chinese family
NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized...
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X-linked intellectual disability related to a novel variant of KLHL15
Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case...
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“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare
There is limited research exploring the knowledge and experiences of genetic healthcare from the perspective of people with intellectual disability....
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Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
BackgroundGlobal developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may...
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Distal 2q duplication in a patient with intellectual disability
We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly,...
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Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families
Intellectual disability, a genetically and clinically varied disorder and is a significant health problem, particularly in less developed countries...
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FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals
F-box protein 11 ( FBXO11 ) is a member of F-Box protein family, which has recently been proved to be associated with intellectual developmental...
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
The gene for ATP binding cassette subfamily A member 2 ( ABCA2 ) is located at chromosome 9q34.3. Biallelic ABCA2 variants lead to intellectual...
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Developmental associations between cognition and adaptive behavior in intellectual and developmental disability
BackgroundIntellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social,...
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A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
Intellectual disability (ID) and retinal dystrophy (RD) are the frequently found features of multiple syndromes involving additional systemic...
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Novel SETBP1 mutation in a chinese family with intellectual disability
BackgroundIntellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills...
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Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability that leads to various complications, including...
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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability
A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through...
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De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed...
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Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
Aim and ObjectiveIntellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode...
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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
BackgroundThe etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of...
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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants...
