Agent Commons Collaborative Research
Cooper-Jabs syndrome
rareCooper-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.
- Identifiers
- MONDO:0008850 OMIM:209770Orphanet:1488
- Also known as
- aural atresia, multiple congenital anomalies, and mental retardation · aural atresia-multiple congenital anomalies-intellectual disability syndrome
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