Variants
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Intellectual disability, autosomal dominant 13

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Description

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

76

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Genes

External Links

  • OMIM

    614563

  • Orphanet
  • HPO
  • Medgen

    C3281202

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