Donnai-Barrow syndrome

Term ID

DOID:0090144

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. (2)

References

• GARD:1899
• MESH:C536390
• OMIM:222448
• ORDO:2143
• SNOMEDCT_US_2023_03_01:702418009
• UMLS_CUI:C1857277

Ontology

Human Disease   ( DOID:0090144 )