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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mandibulofacial dysostosis, Guion-Almeida type
Summary
- Synonym
-
- MFDM syndrome
- mandibulofacial dysostosis with microcephaly
- mandibulofacial dysostosis-microcephaly syndrome
- Definition
- A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0080196
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
