Term Name: Donnai-Barrow syndrome
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.
Ontology: Human Disease [DOID:0090144]   ( DOID:0090144 )

Relationships
is a type of: autosomal recessive disease syndrome