DISEASES

Disease-gene associations mined from literature

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 ...