Blepharophimosis-intellectual disability syndrome, Ohdo type
ORPHA:2728· ICD-10 Q87.8
Definition
A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal