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Human Disease

mandibulofacial dysostosis, Guion-Almeida type

Term ID
DOID:0080196
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0080196 )
Relationships
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Genes Involved
Zebrafish Models