| Metadata | |
|---|---|
| ID | DOID:0060290 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/22077973/, https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes |
| Xrefs |
SNOMEDCT_US_2023_03_01:699298009 |
| Subsets |
DO_rare_slim |
| Synonyms |
blepharophimosis-intellectual disability syndrome, SBBYS type [EXACT] Say-Barber-Biesecker-Young-Simpson syndrome [EXACT] SBBYSS [RELATED] |
| Parent Relationships |
is_a Ohdo syndrome |
| Subclass Logical Relationships |
has symptom some ptosis |