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Neurodevelopmental disorder with poor growth and skeletal anomalies

Summary

Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies. More variable features include seizures, nonspecific dysmorphic facial features, oculomotor apraxia, and nonspecific brain imaging abnormalities (Iqbal et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDGS, PCDH-GAMMA-C4, PCDHGC4
    Summary: protocadherin gamma subfamily C, 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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