Global Variome shared LOVD

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Phenotype #0000041878 Individual ID 00055223 Associated disease LMPHM1 Phenotype details Milroy Disease; At 24 wk gestation: subcutaneous oedema involving prefrontal, upper lip, upper limbs, and lower limbs. In utero generalized oedema regressed prenatally. At 4 days of age: developed ascites, which resorbed spontaneously on fasting from days 25-36. Oedema limited to lower extremity by 2 months of age. No FH of lymphoedema or hydrops fetalis. Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis <0d Age/Onset <0d Phenotype/Onset - Protein - Owner name Michel van Geel Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Michel van Geel Date created 2011-10-21 19:42:08 +02:00 (CEST) Date last edited 2012-07-13 14:38:50 +02:00 (CEST)

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