Variants
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Intellectual disability, autosomal dominant 42

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Description

GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

18

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Genes

External Links

  • OMIM

    616973

  • Orphanet
  • HPO
  • Medgen

    C4310774

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