Search Ontology:
Human Disease
macrocephaly-autism syndrome
- Term ID
- DOID:0060867
- Synonyms
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- macrocephaly-intellectual disability-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. (2)
- References
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- MESH:C565342
- MIM:605309
- ORDO:210548
- Ontology
- Human Disease ( DOID:0060867 )
- is a type of
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