Tatton-Brown-Rahman syndrome

Term ID

DOID:0112339

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. (2)

References

• OMIM:615879
• ORDO:404443

Ontology

Human Disease   ( DOID:0112339 )