Metadata | |
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ID | DOID:0061099 |
Name | Carpenter syndrome 2 |
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. https://pubmed.ncbi.nlm.nih.gov/23063620/ |
Xrefs | |
Parent Relationships |
is_a Carpenter syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |