Baraitser-winter syndrome 2

Rare Disease

MONDO:0013812

Also Known As

ACTG1 Baraitser-Winter cerebrofrontofacial syndromeBaraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1Baraitser-Winter syndrome type 2Baraitser-winter syndrome 2BRWS2Baraitser-WINTER syndrome 2

Definition

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.

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Associated Genes

ACTG1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614583 ↗

GARD

GARD:15817 ↗

Related Diseases

Baraitser-Winter syndrome 1

MONDO:0009470

Rare

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