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Donnai-Barrow syndrome; faciooculoacousticorenal syndrome (FOAR syndrome)
Epidemiology:
- rare
Genetics:
- autosomal recessive disorder
- associated with defects in LRP2
Clinical manifestations:
- agenesis of the corpus callosum
- congenital diaphragmatic hernia
- facial dysmorphology
- ocularanomalies
- sensorineural hearing loss
- developmental delay. The
Laboratory:
- proteinuria may be present
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 222448
References
OMIM :accession 222448