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Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Syndrome: Case Series and Systematic Review

Author:Garcia Velazquez, Sandra Azareli   Parra Díaz, Paloma   Altintas, Burak   Hadouri, Nawale   Durham, Emily   Martin, Shayanne   Monteil, Arnaud   Gooch, Catherine   Gil-Nagel, Antonio   Calame, Daniel   Tanner, Jeremy   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.008  

Author Institution:University of Texas Health Science Center San Antonio, San Antonio, TX  Hospital Universitario Ramón y Cajal, Hospital Ruber Internacional, Fundación Iniciativa para las Neurociencias (FINCE), Spain  Washington University in St. Louis, MO  Dijon-Bourgogne University Hospital, France  Channeling Hope Foundation, TX  Institute of Functional Genomics, University of Montpellier, CNRS, Inserm, France  Hospital Ruber Internacional, Madrid, Spain  Baylor College of Medicine, Child Neurology, Houston, TX  

Metabolic Dysfunction in Shashi-Pena Syndrome: A Novel Pathologic ASXL2 Frameshift Variant

Author:Khoury, Sharbel   Singh, Divya   Jamal, Ali   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.009  

Author Institution:Saint Louis University School of Medicine, Saint Louis, MO  SSM Health Cardinal Glennon Children's Hospital-St. Louis University, St Louis, MO  SSM Health Cardinal Glennon Children's Hospital-St. Louis University, MO  

Two-decade Progression to Severe Cognitive and Motor Disability in Megalencephalic Leukoencephalopathy with Subcortical Cysts

Author:Fernandez, Aaron   Padhy, Arpita   Kunhi Veedu, Hari Prasad   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.010  

Author Institution:Kern Medical, Bakersfield, CA  United Neuroscience, Inc, Bakersfield, CA  

When Mitochondria Turned Mega: An Unusual Cause of Early Developmental Regression

Author:Kumar Manokaran, Ranjith   Balaji, Bagath Srinivasan   Gulati, Sheffali   Narasimhan R, Lakshmi   Maheshwari, Uma   Sharma, Mehar Chand   Arumugam, Hemanth Kumar   Rameshkumar, Tejashvi   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.011  

Author Institution:SRIHER, Chennai, India  All India Institute of Medical Sciences, Ansari Nagar, India  All India Institute of Medical Sciences, India  KAPV Government Medical College, India  

Rising Parental Refusal of Newborn Vitamin K: Implications for Neurology and Child Development

Author:De Faria Sousa, Beatriz   Imran, Manal   Holz, Emily   Semidey, Kate   

Session Name:P5: Child Neurology and Developmental Neurology: Stroke 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P5.001  

Author Institution:FIU HWCOM, Weston, FL  FIU HWCOM, coconut creek, FL  FIU HWCOM, FL