Term Name: | Carpenter syndrome 2 |
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Synonyms: | |
Definition: | A Carpenter syndrome 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 that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0061099] ( DOID:0061099 ) |