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DOID:0080196 - mandibulofacial dysostosis, Guion-Almeida type
Disease Ontology Definition:A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
Synonyms: MFDM syndrome, mandibulofacial dysostosis with microcephaly, mandibulofacial dysostosis-microcephaly syndrome,
Echinobase Genes
:
eftud2
| MIM:610536 - mandibulofacial dysostosis, guion-almeida type; mfdga |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)