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Human Disease

Donnai-Barrow syndrome

Term ID
DOID:0090144
Synonyms
  • DBS/FOAR syndrome
  • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
  • diaphragmatic hernia-exomphalos-hypertelorism syndrome
  • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
  • facio-oculo-acoustico-renal syndrome
  • faciooculoacousticorenal syndrome
  • FOAR syndrome
  • Holmes-Schepens syndrome
  • syndrome of ocular and facial anomalies, telecanthus and deafness
Definition
A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. (2)
References
Ontology
Human Disease   ( DOID:0090144 )
Relationships
is a type of
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Genes Involved
Zebrafish Models