OBO ID: DOID:0060290
Term Name: Ohdo syndrome, SBBYS variant Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060290 )
Relationships
is a type of:
OTHER Ohdo syndrome, SBBYS variant PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KAT6B SBBYSS syndrome 603736
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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