Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas

To report the diagnostic yield of clinical singleton whole exome sequencing (WES) performed among a group of Jordanian children presenting with global developmental delay /intellectual disability (GDD/ID), discuss the underlying identified genetic disorders and the challenges encountered. This retro...

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Veröffentlicht in:	Clinical neurology and neurosurgery 2023-07, Vol.230, p.107799-107799, Article 107799
Hauptverfasser:	Masri, Amira T., Oweis, Liyana, Ali, Majd, Hamamy, Hanan
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Child Child development Children & youth Consanguinity Costs Developmental disabilities Developmental Disabilities - diagnosis Developmental Disabilities - epidemiology Developmental Disabilities - genetics Diagnostic tests Epilepsy Etiology Families & family life Family medical history Genetic disorders Genetic Testing Genomes Genomics Global developmental delay Hospitals, University Humans Intellectual disabilities Intellectual disability Intellectual Disability - diagnosis Intellectual Disability - epidemiology Intellectual Disability - genetics Jordan Laboratories Marriage MeCP2 protein Medical records Metabolic disorders Metabolism Methyl-CpG binding protein Nervous System Malformations Neurology Next generation sequencing Parents & parenting Patients Resource limited regions Resource-Limited Settings Retrospective Studies
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