| Metadata | |
|---|---|
| ID | DOID:0112339 |
| Name | Tatton-Brown-Rahman syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/34315901/, https://pubmed.ncbi.nlm.nih.gov/24614070/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DNMT3A overgrowth syndrome [EXACT] DOS [EXACT] Tatton-Brown-Rahman overgrowth syndrome [EXACT] TBRS [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Neurodevelopmental delay has material basis in some autosomal dominant inheritance |