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Results 1 - 6 of 6 for lipomatoses
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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 and ... formerly) Haberland syndrome (formerly) Genetic Testing Registry: Encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../encephalocraniocutaneous-lipomatosis - Genetics
  2. Shwachman-Diamond syndrome 
    ... history of the disorder in their family. Congenital lipomatosis of pancreas Metaphyseal chondrodysplasia, Shwachman type SDS Shwachman ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  3. FGFR1 gene 
    ... gene have been identified in people with encephalocraniocutaneous lipomatosis (ECCL), a rare condition characterized by the growth ... LM. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3;98( ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  4. Adiposis dolorosa 
    ... Dercum disease Dercum's disease Dercum-Vitaut syndrome Lipomatosis dolorosa Morbus dercum Adiposis dolorosa National Organization for ...
    https://medlineplus.gov/genetics/condition/adiposis-dolorosa - Genetics
  5. PTEN gene 
    ... been proposed for the condition is segmental overgrowth, lipomatosis, arteriovenous malformations, and epidermal nevus (SOLAMEN) syndrome; another ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  6. Proteus syndrome 
    ... been proposed for the condition is segmental overgrowth, lipomatosis, arteriovenous malformations, and epidermal nevus (SOLAMEN) syndrome; another ...
    https://medlineplus.gov/genetics/condition/proteus-syndrome - Genetics