Term Name:	Ohdo syndrome, SBBYS variant
Synonyms:	blepharophimosis-intellectual disability syndrome, SBBYS type, Say-Barber-Biesecker-Young-Simpson syndrome, SBBYSS
Definition:	A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22.
Ontology:	Human Disease [DOID:0060290]   ( DOID:0060290 )