Identification of novel variants and phenotypic expansion in OGT-CDG
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Presenting Author - jan verheijen, PhD; Co-Author - Lotte Vanhye, Msc; Co-Author - Ayesha Niaz Shaikh, MD; Co-Author - Silvia Radenkovic, PhD; Co-Author - Wasantha Ranatunga, PhD; Co-Author - Pavel Pichurin, MD; Co-Author - Joan Steyermark, CGC; Co-Author - Eric Klee; Co-Author - Eva Morava-Kozicz, MD, PhD;
Meta Tag
Brain/Nervous System
Genotype-Phenotype Correlations
Intellectual disability
Metabolic Disorder
X-Inactivation/X-Linked Disease
Co-Author Lotte Vanhye, Msc
Co-Author Ayesha Niaz Shaikh, MD
Co-Author Silvia Radenkovic, PhD
Co-Author Wasantha Ranatunga, PhD
Co-Author Pavel Pichurin, MD
Co-Author Joan Steyermark, CGC
Co-Author Eric Klee
Co-Author Eva Morava-Kozicz, MD, PhD
Presenting Author jan verheijen, PhD
Keywords
novel variants
phenotypic expansion
OGT-CDG
genetic disorder
intellectual disability
developmental delays
missense variants
OGT gene
motor delay
limb abnormalities

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