Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome
0.010 GeneticVariation disease BEFREE Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 18553518 2008