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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Summary

Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) is characterized by developmental delay with variably impaired intellectual development with speech delay, behavioral abnormalities, and nonrecurrent dysmorphic facial features. Additional features may include hypotonia, skeletal anomalies such as scoliosis or pectus defects, and visual problems such as strabismus and myopia (Bogaert et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ASF, NEDFBA, SF2, SF2p33, SFRS1, SRp30a, SRSF1
    Summary: serine and arginine rich splicing factor 1

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