OBO ID: DOID:0090144
Term Name: Donnai-Barrow syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0090144)
OTHER Donnai-Barrow syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LRP2 Donnai-Barrow syndrome 222448
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)