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Intellectual developmental disorder with speech delay and axonal peripheral neuropathy

Summary

Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems (summary by Martin et al., 2020 and Ahmed et al., 2021) [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IDDSAPN, NY-CO-1, RQC2, SDCCAG1, NEMF
    Summary: nuclear export mediator factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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