Autoszomális recesszív
Caused by changes in both copies of the BLTP1 gene (formerly KIAA1109), which encodes a large protein involved in moving lipids between membranes in cells.
Tünetek és jelek
Often recognised before birth, with enlarged brain ventricles, underdeveloped brain tissue, joint contractures (arthrogryposis) and clubfoot.
Mit változtat a diagnózis
Care is supportive and guided by neurology, respiratory and orthopaedic needs. Parents of an affected child are usually both carriers, so genetic counselling, carrier testing and options for prenatal testing can be discussed.
Vizsgált gének
Más néven
ALKKUCS
