You are using an outdated browser. Please upgrade your browser to improve your experience.

branchiootic syndrome 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.
Uniprot Description A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.
Mondo Term and Equivalent IDs
MONDO:0011258:  branchiootic syndrome 1
UMLS:C1865143: