Muhammad Younus, Memoona Rasheed, Zhaohan Lin, Saeed A Asiri, Ibrahim A Almazni, Mohammed Ali Alshehri, Sarfraz Shafiq, Imran Iqbal, Amjad Khan, Hanif Ullah, Muhammad Umair, Ahmed Waqas
INTRODUCTION: Intellectual disability (ID) is a lifelong disability that affects an individual‧s learning capacity and adaptive behavior. Such individuals depend on their families for day-to-day survival and pose a significant challenge to the healthcare system, especially in developing countries. ID is a heterogeneous condition, and genetic studies are essential to unravel the underlying cellular pathway for brain development and functioning. METHODS: Here we studied a female index patient, born to a consanguineous Pakistani couple, showing clinical symptoms of ID, ataxia, hypotonia, developmental delay, seizures, speech abnormality, and aggressive behavior...
February 2023: Molecular Syndromology