Donnai-Barrow syndrome (DOID:0090144)
Alliance: disease page
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
Alt IDs: OMIM:222448, MESH:C536390, ORDO:2143, UMLS_CUI:C1857277
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.