Global Variome shared LOVD

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Phenotype #0000001842 Individual ID 00002973 Associated disease CGL2 Phenotype details walk 16m; 18m-psychomotor delay; max. language acquisition simple sentences, hyperactive/irritable, no spasticity, no ataxic gait, no sleep disturbances, lipodystrophy, no muscular hypertrophy, acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-no seizures, no neurological involution; lipodystrophy (HP:0009125) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Onset 2m 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 22:42:11 +02:00 (CEST) Date last edited 2017-09-01 09:32:48 +02:00 (CEST)

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