U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities

Summary

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C10orf4, F26C11.1-like, FRA10A, NEDGFC, FRA10AC1
    Summary: FRA10A associated CGG repeat 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.