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Mandibulofacial Dysostosis, Guion-Almeida Type

Disease ID: disease_node_20125

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DbxrefGARD:10056, MIM:610536, ORDO:79113
SubclassofDOID_0050736, DOID_225
Data SourceDOID
SynonymsMFDM syndrome, mandibulofacial dysostosis with microcephaly, mandibulofacial dysostosis-microcephaly syndrome
Doid Labelmandibulofacial dysostosis, Guion-Almeida type
Doid DescriptionA syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20125
Doid IdDOID_0080196
LabelMandibulofacial Dysostosis, Guion-Almeida Type