Global Variome shared LOVD

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Phenotype #0000001823 Individual ID 00002909 Associated disease CGL2 Phenotype details BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); neurodegeneration; 19m-walk; 21m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, spasticity, ataxic gait, sleep disturbances, no acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy; first months of life lipodystrophy, muscular hypertrophy, hyper-triglyceridemia, hepatomegaly; 3y-neurological involution; 4y-seizures; 8y-died of aspirative pneumonia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Onset 4m Age/Examination - Age/Diagnosis - Protein - Phenotype/Onset hepatomegaly, severe hypertriglyceridaemia, coarse facies, striking muscle induration limbs Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-05-14 21:29:41 +02:00 (CEST) Date last edited 2013-05-14 22:49:49 +02:00 (CEST)

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