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Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

Summary

Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF) is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. The phenotype and severity of the disorder is heterogeneous, ranging from borderline to severe. Brain imaging is usually normal. More variable additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet (Jia et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDLBF, NICE-4, NICE4, UBAP2L
    Summary: ubiquitin associated protein 2 like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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