OBO ID: DOID:0060703 |
Term Name: | Muenke Syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0060703 ) |
OTHER Muenke Syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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