|OBO ID: DOID:0090144|
|Term Name:||Donnai-Barrow syndrome||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0090144)|
|is a type of:||
OTHER Donnai-Barrow syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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