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mandibulofacial dysostosis-microcephaly syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.
Uniprot Description A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.
Disease Ontology Description An autosomal dominant disease characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
Mondo Term and Equivalent IDs
MONDO:0012516:  mandibulofacial dysostosis-microcephaly syndrome
GARD:0010056: 
MESH:C537405: 
Orphanet:79113: 
SCTID:711543008: 
UMLS:C1864652: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)