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Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities

Summary

Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities. More variable additional findings include hypotonia, seizures, and ocular defects. Brain imaging tends to show structural defects of the corpus callosum and cerebellar hypoplasia (Duijkers et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HNRPR, NEDDFSB, hnRNP-R, HNRNPR
    Summary: heterogeneous nuclear ribonucleoprotein R

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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