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Summary Literature (0)
DOID:0090144 - Donnai-Barrow syndrome


Disease Ontology 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.

Synonyms: DBS/FOAR syndrome, FOAR syndrome, Holmes-Schepens 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, syndrome of ocular and facial anomalies, telecanthus and deafness

In OMIM:
OMIM:222448 - DONNAI-BARROW SYNDROME

In Mondo Disease Ontology:
MONDO:0009104 - Donnai-Barrow syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : lrp2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)