ZFIN Human Disease: Baraitser-Winter syndrome 1

OBO ID: DOID:0081112

Term Name:	Baraitser-Winter syndrome 1		Search Ontology:
Synonyms:
Definition:	A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. https://pubmed.ncbi.nlm.nih.gov/29220674/
References:	OMIM:243310
Ontology:	Human Disease ( DOID:0081112 )

Relationships

is a type of:	autosomal dominant disease Baraitser-Winter syndrome autosomal dominant disease Baraitser-Winter syndrome Show first 5 Terms

OTHER Baraitser-Winter syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ACTB	actb2 actb1	Baraitser-Winter syndrome 1	243310

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None