Ohdo syndrome, SBBYS variant (DOID:0060290)
Alliance: disease page
Synonyms: blepharophimosis-intellectual disability syndrome, SBBYS type; Say-Barber-Biesecker-Young-Simpson syndrome; SBBYSS
Alt IDs: OMIM:603736, MESH:C536717, ORDO:3047, UMLS_CUI:C1863557
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.