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Results 1 - 2 of 2 for Encephalocraniocutaneous lipomatosis
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  1. Encephalocraniocutaneous lipomatosis 
    Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head ... syndrome (formerly) Haberland syndrome (formerly) Genetic Testing Registry: Encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../encephalocraniocutaneous-lipomatosis - Genetics
  2. FGFR1 gene 
    ... FGFR1 gene have been identified in people with encephalocraniocutaneous lipomatosis (ECCL), a rare condition characterized by the growth ... McDonell LM. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3;98( ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics