Disease: Developmental regression ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease GENOMICS_ENGLAND In seven unrelated affected individuals, all suffering from developmental regression starting at 2.5-7 years, we identified a heterozygous variant, c.628G>A in UBTF, encoding p.Glu210Lys in UBF, which occurred de novo in all cases. 28777933 2017
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 CausalMutation disease CLINVAR