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Metadata
DOID DOID:0060290
Name blepharophimosis-intellectual disability syndrome, SBBYS type
Definition A group of syndromes including Ohdo syndrome and Say Barber Biesecker Youn-Simpson syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.
https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes
Xrefs

MESH:C536717

OMIM:603736

ORDO:3047

UMLS_CUI:C1863557

Subsets

DO_rare_slim

Synonyms

Ohdo syndrome, SBBYS Variant [EXACT]

Say-Barber-Biesecker-Young-Simpson syndrome [EXACT]

SBBYSS [RELATED]

Relationships

is_a Ohdo syndrome

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