ZFIN Human Disease: Tatton-Brown-Rahman syndrome

OBO ID: DOID:0112339

Term Name:	Tatton-Brown-Rahman syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease syndromic intellectual disability autosomal dominant disease syndromic intellectual disability Show first 5 Terms

OTHER Tatton-Brown-Rahman syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DNMT3A	dnmt3aa dnmt3ab	Tatton-Brown-Rahman syndrome	615879

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None