PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Mild Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.010 Biomarker disease BEFREE Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. 21567912 2011