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Athabaskan brainstem dysgenesis syndrome

Overview

A rare genetic neurological disorder characterized by horizontal gaze palsy sensorineural deafness central hypoventilation developmental delay and intellectual disability described in persons of Athabascan American Indian heritage. Swallowing dysfunction vocal cord paralysis facial paresis seizures internal carotid artery and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2022.

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