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Human Disease
mandibulofacial dysostosis, Guion-Almeida type
- Term ID
- DOID:0080196
- Synonyms
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- mandibulofacial dysostosis with microcephaly
- mandibulofacial dysostosis-microcephaly syndrome
- MFDM syndrome
- Definition
- A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. (2)
- References
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- GARD:10056
- OMIM:610536
- ORDO:79113
- Ontology
- Human Disease ( DOID:0080196 )
- is a type of
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