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Neurodevelopmental disorder with microcephaly and movement abnormalities

Summary

Neurodevelopmental disorder with microcephaly and movement abnormalities (NEDMIM) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait. Affected individuals may show hypotonia or hypertonia with spasticity, ataxia, and choreoathetoid movements. Most patients have microcephaly and short stature. Ophthalmic features, behavioral abnormalities, and nonspecific dysmorphic features are commonly observed. Additional more variable features include seizures, brain imaging abnormalities, and skeletal defects (Serey-Gaut et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: KIAA0406, NEDMIM, smg-10, TTI1
    Summary: TELO2 interacting protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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