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Metadata
ID DOID:0060912
Name craniosynostosis 7
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.
https://pubmed.ncbi.nlm.nih.gov/23438589/
Xrefs

MIM:617439

Synonyms

CRS7 [EXACT]

Parent Relationships

is_a craniosynostosis

is_a digenic disease

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