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Cooper-Jabs syndrome

Disease Summary
Associated Targets ()

Mondo Description Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0008850:  Cooper-Jabs syndrome
MESH:C565923: 
Orphanet:1488: 
SCTID:720748007: