OBO ID: DOID:0080196
Term Name: mandibulofacial dysostosis, Guion-Almeida type Search Ontology:
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
is a type of:
OTHER mandibulofacial dysostosis, Guion-Almeida type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type 610536
ZEBRAFISH MODELS
Fish Conditions Citations
eftud2fn10a/fn10a (TL) standard conditions Lei et al., 2017
PHENOTYPE No data available

CITATIONS (1)
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