This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localised to the Xq27-q28 region.
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No extended properties.
Concept Alternate Designations
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Concept Designation Description
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Designation Type
PHIN Preferred Term Flag
Code Flag
3308716017
Microphthalmia with ankyloblepharon and intellectual disability syndrome