Mondo Description Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.

Uniprot Description An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.