Metadata | |
---|---|
ID | DOID:0060290 |
Name | blepharophimosis-intellectual disability syndrome, SBBYS type |
Definition | A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability. https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes |
Xrefs |
SNOMEDCT_US_2023_03_01:699298009 |
Subsets |
DO_rare_slim |
Synonyms |
Ohdo syndrome, SBBYS Variant [EXACT] Say-Barber-Biesecker-Young-Simpson syndrome [EXACT] SBBYSS [RELATED] |
Parent Relationships |
is_a Ohdo syndrome |