Global Variome shared LOVD

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Phenotype #0000001828 Individual ID 00002914 Associated disease CGL2 Phenotype details BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); 16m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, no spasticity, ataxic gait, sleep disturbances, no lipodystrophy, no muscular hypertrophy, no acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy, unknown hyper-triglyceridemia, no hepatomegaly; 19m-walk; 4y-seizures, neurological involution; 6y-deceased Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Onset - Age/Examination - Age/Diagnosis - Protein - Phenotype/Onset developmental delay, lipodystrophy 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 22:10:14 +02:00 (CEST) Date last edited 2013-05-14 22:51:34 +02:00 (CEST)

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