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Bosley-Salih-Alorainy syndrome
Genetics:
- associated with defects in HOXA1
Clinical manifestations:
- horizontal gaze abnormalities
- deafness
- facial weakness
- vascular malformations of the internal carotid arteries & cardiac outflow trac
- variable manifestations:
- mental retardation
- autism
- in contrast to individuals with Athabaskan brainstem dysgenesis syndrome, central hypoventilation is not observed
General
developmental disorder
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601536
References
OMIM :accession 601536