Term Name: | craniosynostosis 7 |
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Synonyms: | CRS7 |
Definition: | A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. |
Ontology: | Human Disease [DOID:0060912] ( DOID:0060912 ) |