Blepharophimosis-intellectual disability syndrome
ORPHA:293642
Definition
A rare group of syndromic intellectual disabilities characterized by global developmental delay (DD)/intellectual disability (ID), blepharophimosis and other craniofacial dysmorphisms, and organ anomalies.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Age of onset
- Infancy, Neonatal