Autoszomális recesszív
Caused by changes in both copies of FAT4, which encodes a large cell-adhesion protein that guides how cells are organised in developing tissues, including the brain and lymphatic vessels.
Tünetek és jelek
Neurodevelopmental abnormalities, with craniofacial and skeletal differences, as seen in Van Maldergem syndrome.
Mit változtat a diagnózis
Developmental and educational support, with hearing, kidney and neurological assessment. Both parents of an affected child are usually carriers, so genetic counselling and carrier testing of relatives are available.
Vizsgált gének
MONDO:0100603Források: [1][2]
