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Neurodevelopmental disorder with hypotonia and brain abnormalities

Summary

Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CLC3, ClC-3, NEDHYBA, NEDSBA, CLCN3
    Summary: chloride voltage-gated channel 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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