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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

Summary

Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) is characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017). [from OMIM]

Available tests

6 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: AFND, NEDMAGA, ZSWIM6
    Summary: zinc finger SWIM-type containing 6

Clinical features

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