Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)

Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive disease caused by pathogenic variants in the gene MLC1. The clinical presentation is variable but most commonly begins with delayed walking and low muscle tone. Motor function worsens over time, and most affected individuals are wheelchair-bound by late childhood. This condition causes seizures and difficulties in school. Affected individuals have larger than average heads. The effect on life expectancy is not known due to its relatively recent discovery. It is known that some affected individuals have passed away in their teens or twenties, while others have lived into late adulthood. It is not currently possible to predict how severe the disease will be based on the type of inherited variants. This disease can affect people of any ethnicity, but it is more common in people who are Libyan Jewish.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Megalencephalic Leukoencephalopathy With Subcortical CystsMLC12-8, 10-11 [12] (*8)ARWorldwide< 1 in 50087%0.00026048450117218
Megalencephalic Leukoencephalopathy With Subcortical CystsMLC12-8, 10-11 [12] (*8)ARLibyan Jewish1 in 40>95%0.00128040973111396