Version: 8.0.0
Date: Tue Jan 28 2025
Donnai-Barrow syndrome
DOID:0090144
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Donnai-Barrow syndrome

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
  • diaphragmatic hernia-exomphalos-hypertelorism syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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