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Intellectual developmental disorder with poor growth and with or without seizures or ataxia

Summary

Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. The phenotype is highly variable: some patients may show ataxia and some may have seizures (summary by Hu et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ABC2, IDPOGSA, ABCA2
    Summary: ATP binding cassette subfamily A member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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