Term Name: | Muenke Syndrome |
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Synonyms: | FGFR3-related craniosynostosis |
Definition: | A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. |
Ontology: | Human Disease [DOID:0060703] ( DOID:0060703 ) |