macrocephaly-autism syndrome

Term ID

DOID:0060867

Synonyms

• 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

• MESH:C565342
• OMIM:605309
• ORDO:210548

Ontology

Human Disease   ( DOID:0060867 )