Branchio-otic syndrome

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf genetic disorder
syndrome
gptkbp:affects neck
ear
gptkbp:causedBy genetic disorder
gptkbp:frequency rare
gptkbp:hasGeneticBasis EYA1 gene mutation
SIX1 gene mutation
SIX5 gene mutation
https://www.w3.org/2000/01/rdf-schema#label Branchio-otic syndrome
gptkbp:inheritance autosomal dominant
gptkbp:OMIM #602588
gptkbp:onset congenital
gptkbp:relatedTo gptkb:Branchio-oto-renal_syndrome
gptkbp:symptom hearing loss
branchial cleft cysts
preauricular pits
ear malformations
gptkbp:treatment supportive care
hearing aids
surgical intervention
gptkbp:bfsParent gptkb:BOR_syndrome
gptkb:EYA1_gene
gptkb:SIX1
gptkbp:bfsLayer 8