{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15(1)"],"submitter":["Ali Khan Q"],"pubmed_abstract":["Background Intellectual disability (ID), also termed mental retardation (MR), is a neurodevelopmental disorder characterized by an intelligence quotient (IQ) of 70 or below and a deficit in at least two behaviors associated with adaptive functioning. The condition is further classified into syndromic intellectual disability (S-ID) and non-syndromic intellectual disability (NS-ID). This study highlights the genes associated with NS-ID. Objectives A genetic study was performed on two Pakistani families to know the inheritance patterns, clinical phenotypes, and molecular genetics of affected individuals with NS-ID. Methodology Samples were collected from two families: families A and B. All affected individuals in both families were diagnosed by a neurologist. Written informed consent was take"],"journal":["Cureus"],"pagination":["e34085"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9946902"],"repository":["biostudies-literature"],"pubmed_title":["Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition."],"pmcid":["PMC9946902"],"pubmed_authors":["Vattikuti B","Shahzadi A","Verma R","Farkouh M","Santiago N","Abdi P","Farkouh CS","Shah SD","Ali Khan Q","Nunez A","Anthony M","Khan AZ","Zepeda D","Khan R"],"additional_accession":[]},"is_claimable":false,"name":"Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition.","description":"Background Intellectual disability (ID), also termed mental retardation (MR), is a neurodevelopmental disorder characterized by an intelligence quotient (IQ) of 70 or below and a deficit in at least two behaviors associated with adaptive functioning. The condition is further classified into syndromic intellectual disability (S-ID) and non-syndromic intellectual disability (NS-ID). This study highlights the genes associated with NS-ID. Objectives A genetic study was performed on two Pakistani families to know the inheritance patterns, clinical phenotypes, and molecular genetics of affected individuals with NS-ID. Methodology Samples were collected from two families: families A and B. All affected individuals in both families were diagnosed by a neurologist. Written informed consent was take","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2025-04-04T09:48:49.806Z","creation":"2024-11-05T18:12:21.034Z"},"accession":"S-EPMC9946902","cross_references":{"pubmed":["36843831"],"doi":["10.7759/cureus.34085"]}}