Donnai Barrow syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms). (Orphanet Rare Disease Ontology, Orphanet_2143)
External Link http://www.omim.org/entry/222448
Similar Terms
Downloads & Tools

Genes

1 genes associated with the Donnai Barrow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
LRP2 low density lipoprotein receptor-related protein 2