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Neurodevelopmental disorder with visual defects and brain anomalies

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Description

Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

9

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Genes

External Links

  • OMIM

    618547

  • Orphanet
  • HPO
  • Medgen

    C5231404

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