Case Report: NFIA-related Disorder Caused by Inherited Missense Mutations Leading to Variable Presentations Among Family Members
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Asset Subtitle
Presenting Author - Peyton Paschell, MS; Co-Author - Jacquelyn Johnson, MS, CGC; Co-Author - Christina Laukaitis, MD, PhD;
Meta Tag
Bone/Joint Abnormalities
Brain/Nervous System
Exome sequencing
Genotype-Phenotype Correlations
Inheritance Patterns
Intellectual disability
Musculoskeletal system
Co-Author Jacquelyn Johnson, MS, CGC
Co-Author Christina Laukaitis, MD, PhD
Presenting Author Peyton Paschell, MS
Keywords
NFIA-related disorder
hypoplasia of the corpus callosum
macrocephaly
developmental delay
seizures
joint hypermobility
enlarged kidneys
autism spectrum disorder
musculoskeletal abnormalities
genetic testing

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