| Metadata | |
|---|---|
| ID | DOID:0080196 |
| Name | mandibulofacial dysostosis, Guion-Almeida type |
| Definition | A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. https://www.ncbi.nlm.nih.gov/books/NBK214367/, https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mandibulofacial dysostosis with microcephaly [EXACT] mandibulofacial dysostosis-microcephaly syndrome [EXACT] MFDM syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |