Ohdo syndrome, SBBYS variant

Term ID

DOID:0060290

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. (2)

References

• MESH:C536717
• MIM:603736
• ORDO:3047
• SNOMEDCT_US_2023_03_01:699298009
• UMLS_CUI:C1863557

Ontology

Human Disease   ( DOID:0060290 )