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Neurodevelopmental disorder with hypotonia and gross motor and speech delay

Summary

Neurodevelopmental disorder with hypotonia and gross motor and speech delay (NEDHMS) is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy. Affected individuals have axial hypotonia and limited ability to walk, including some who are nonambulatory with lower limb spasticity, impaired intellectual development, and poor or absent speech and language. Additional more variable features may include seizures, behavioral problems, distal skeletal anomalies, and dysmorphic facial features (Melo et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: E4, NEDHMS, UBOX2, UFD2, UBE4A
    Summary: ubiquitination factor E4A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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