Human genes for Muenke Syndrome
Muenke Syndrome [DOID:0060703]
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.
Synonyms: Muenke Syndrome, DOID:0060703, Muenke disease, Muenke disorder, Muenke Syndromes ...