Term Name: | Donnai-Barrow syndrome |
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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 ) |