| Metadata | |
|---|---|
| ID | DOID:0060867 |
| Name | macrocephaly-autism syndrome |
| Definition | A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/15805158, https://www.ncbi.nlm.nih.gov/pubmed/1719811 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
macrocephaly-intellectual disability-autism syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has phenotype some Frontal bossing has phenotype some Midface retrusion has material basis in some autosomal dominant inheritance has phenotype some Macrocephaly has phenotype some Square face has phenotype some Long philtrum |