Global Variome shared LOVD

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Phenotype #0000001825 Individual ID 00002911 Associated disease CGL2 Phenotype details BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); neurodegeneration; 12m-walk; 18m-psychomotor delay; max. language acquisition simple sentences, hyperactive/irritable, spasticity, ataxic gait, no sleep disturbances, lipodystrophy, muscular hypertrophy, acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-seizures; 4y-neurological involution; 8y-died of respiratory failure in status epileptics Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Onset 4y Age/Examination - Age/Diagnosis - Protein - Phenotype/Onset BSCL phenotype 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 21:52:46 +02:00 (CEST) Date last edited 2013-05-14 22:50:24 +02:00 (CEST)

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