Disease

Ohdo syndrome, SBBYS variant

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.
Synonyms
  • blepharophimosis-intellectual disability syndrome, SBBYS type
  • Say-Barber-Biesecker-Young-Simpson syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models