Term Name: | Tatton-Brown-Rahman syndrome |
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Synonyms: | DNMT3A overgrowth syndrome, DOS, Tatton-Brown-Rahman overgrowth syndrome, TBRS |
Definition: | A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. |
Ontology: | Human Disease [DOID:0112339] ( DOID:0112339 ) |