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.
synonyms:
603736,
SBBYSS,
OMIM:603736,
UMLS_CUI:C1863557,
Say-Barber-Biesecker-Young-Simpson syndrome,
ORDO:3047,
SNOMEDCT_US_2023_03_01:699298009,
MESH:C536717,
blepharophimosis-intellectual disability syndrome, SBBYS type
