GENETIC ENCYCLOPEDIA
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disease: Legius syndrome

id5389
nameLegius syndrome
descriptionLegius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / ADHD / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 200 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.
variant-disease NM_152594.2(SPRED1):c.349C>T (p.Arg117Ter) AND Legius syndrome
NM_152594.2(SPRED1):c.131T>A (p.Val44Asp) AND Legius syndrome
NM_152594.2(SPRED1):c.291G>A (p.Lys97=) AND Legius syndrome
NM_152594.2(SPRED1):c.*1747A>C AND Legius syndrome
NM_152594.2(SPRED1):c.*4046G>A AND Legius syndrome
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