Disease #00626 (BRWS1 (syndrome, Baraitser-Winter, type 1 (BRWS1)), OMIM:243310)

Official abbreviation BRWS1
Name syndrome, Baraitser-Winter, type 1 (BRWS1)
OMIM ID 243310
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ACTB
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00111411 S_087 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - 0 - - BRWS1 Severe ID, congenital heart defect, cleft lip and palate, epilepsy, behavioural anomalies, dysplastic ears, pre-auricular pit, downslanting palpebral fissures ACTB ACTB 1 1 Bernt Popp
00204316 patient PubMed: Johnston 2013 - F - United States - - 0 - - BRWS1 see paper; ... ACTB ACTB 1 1 Jennifer Johnston
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