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Donnai-Barrow syndrome
Summary
- Synonym
-
- 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
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090144
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
