ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Disease: Parachute malformation of mitral valve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546965
Disease: Parachute malformation of mitral valve
Parachute malformation of mitral valve 		0.010 Biomarker disease BEFREE We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum.His chromosomes were normal.He died at 19 months. 3565473 1987