Disease-gene associations mined from literature

Human genes for Donnai-Barrow syndrome

Donnai-Barrow syndrome [DOID:0090144]

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:  Donnai-Barrow syndrome,  DOID:0090144,  DonnaiBarrow syndrome,  Donnai-Barrow disease,  Donnai-Barrow disorder ...