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Athabaskan brainstem dysgenesis syndrome (Navajo brainstem syndrome)
Genetics:
- associated with defects in HOXA1
Clinical manifestations:
- horizontal gaze palsy
- sensorineural deafness
- central hypoventilation
- developmental delay
- variable manifestations:
- swallowing dysfunction
- vocal cord paralysis
- facial paresis
- seizures
- cardiac outflow tract anomalies
General
developmental disorder
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601536
References
OMIM :accession 601536