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Tall stature-intellectual disability-facial dysmorphism syndrome

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Description

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and impaired intellectual development (Tatton-Brown et al., 2014). Some patients may have increased susceptibility to the development of acute myeloid leukemia (AML; 601626), particularly if they have DNMT3A mutations affecting the R882 residue (Hollink et al., 2017).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

75

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Genes

External Links

  • OMIM

    615879

  • Orphanet

    404443

  • HPO
  • Medgen

    C4014545

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