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Human Disease

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
Ontology
Human Disease   ( DOID:0060867 )
Relationships
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Genes Involved
Zebrafish Models