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Glossary Intellectual Disability

condition with significant limitations in intellectual functioning and adaptive behavior

Intellectual Disability (ID), also known as Intellectual Developmental Disorder (IDD), is a condition characterized by significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18 and can affect reasoning, learning, problem-solving, and the ability to perform daily activities independently.

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research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

19 citations , December 2015 in “European Journal of Human Genetics”

This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

research Feasibility of Measuring Hair Glucocorticoids as a Potential Biomarker for Chronic Stress in Older Adults With Intellectual Disabilities

September 2025 in “Journal of Intellectual Disability Research”

This study investigated the feasibility of measuring scalp hair glucocorticoids as a stress indicator in older adults with intellectual disabilities and found moderate feasibility overall, with higher success in females and those with moderate disabilities, but lower feasibility in males, particularly those balding.

research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

5 citations , December 2014 in “Molecular cytogenetics”

This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.

research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

16 citations , July 2021 in “American Journal of Medical Genetics Part A”

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

3 citations , December 2021 in “Frontiers in endocrinology”

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

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