Term Name: Muenke Syndrome
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 )

Relationships
is a type of: autosomal dominant disease craniosynostosis