Tall stature-intellectual disability-facial dysmorphism syndrome
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Sign InDescription
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).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
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