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March 1, 2026Frontiers in PsychiatryOpen Access

Editorial: Rare genetic disorders associated with intellectual disability

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Authors

MSMustafa A. Salih

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Overview

Editorial discusses rare genetic disorders linked to intellectual disability, highlighting current knowledge and implications.

Key Points

  • This editorial aims to review the latest findings on rare genetic disorders associated with intellectual disability (ID) and their implications for diagnosis and treatment.
  • Review of six manuscripts related to rare genetic disorders and intellectual disability.
  • Use of whole exome sequencing to identify pathogenic variants in specific genes.
  • Assessment of quality of life in children with trisomy 21 and their families.
  • Identification of a novel variant in the ALDH7A1 gene linked to pyridoxine-dependent epilepsy.
  • Discovery of a pathogenic variant in the ISCA2 gene causing mitochondrial dysfunction syndrome 4.
  • Reporting of a new variant in the NACC1 gene associated with severe developmental delay and intellectual disability.

Cite This Study

Mustafa A. Salih (2026) studied this question.

synapsesocial.com/papers/69a3d6eaec16d51705d2da41https://doi.org/10.3389/fpsyt.2026.1792382
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The Genetics of Intellectual Disability2023 · 67 citations
  2. 2The genotypic spectrum of <i>ALDH7A1</i> mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy2019 · 102 citations
  3. 3Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy2022 · 43 citations
  4. 4<i>ISCA2</i> mutation causes infantile neurodegenerative mitochondrial disorder2014 · 100 citations