PDLIM1, PDZ and LIM domain 1, 9124

N. diseases: 25; N. variants: 0
Disease: Congenital anomaly of face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.010 GeneticVariation group BEFREE Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. 17625998 2007