UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Disease: Mosaic trisomy 2 syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707010
Disease: Mosaic trisomy 2 syndrome
Mosaic trisomy 2 syndrome 		0.010 Biomarker disease BEFREE We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. 9178319 1997