Microphthalmia-ankyloblepharon-intellectual disability syndrome
ORPHA:85275· ICD-10 Q11.2
Definition
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal