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GTR Home > Conditions/Phenotypes > Donnai-Barrow syndrome

Summary

Excerpted from the GeneReview: Donnai-Barrow Syndrome
Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose. Ocular complications include high myopia, retinal detachment, retinal dystrophy, and progressive vision loss. Additional common features include agenesis of the corpus callosum, sensorineural hearing loss, intellectual disability, and congenital diaphragmatic hernia and/or omphalocele. Both inter- and intrafamilial phenotypic variability are observed.

Genes See tests for all associated and related genes

  • Also known as: DBS, GP330, LRP-2, LRP2
    Summary: LDL receptor related protein 2

Clinical features

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