Phenotype #0000001841

Individual ID 00002972
Associated disease CGL2
Phenotype details 7m-psychomotor delay; walk 15m; max. language acquisition few words, hyperactive/irritable, no spasticity, ataxic gait, no sleep disturbances, lipodystrophy, no muscular hypertrophy, acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-seizures; 4y-neurological involution; 7y-died of respiratory infection; lipodystrophy (HP:0009125)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Onset 3m
Age/Examination -
Age/Diagnosis -
Protein -
Phenotype/Onset lipodystrophy, hepatomegaly, hypertriglyceridaemia
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-05-14 22:35:07 +02:00 (CEST)
Date last edited 2017-09-01 09:32:48 +02:00 (CEST)

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