Summary Literature (0)

DOID:0090144 - Donnai-Barrow syndrome

Disease Ontology Definition:An autosomal recessive disease 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 LRP2 gene 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,

Echinobase Genes :


OMIM:

MIM:222448 - donnai-barrow syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee