Microphthalmia-ankyloblepharon-intellectual disability syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Microphthalmia-ankyloblepharon-intellectual disability syndrome

Synonyms: MCOPS4 | Syndromic microphthalmia type 4

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

Newly diagnosed with
Microphthalmia-ankyloblepharon-intellectual disability syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.