Donnai-Barrow syndrome; faciooculoacousticorenal syndrome (FOAR syndrome)
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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